{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:23:10Z","timestamp":1791894190649,"version":"4.3.4"},"reference-count":101,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2020,11,13]],"date-time":"2020-11-13T00:00:00Z","timestamp":1605225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI19\/00377"],"award-info":[{"award-number":["PI19\/00377"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diseases"],"abstract":"<jats:p>Rare diseases are those that have a low prevalence in the population (less than 5 individuals per 10,000 inhabitants). However, infrequent pathologies affect a large number of people, since according to the World Health Organization (WHO), there are about 7000 rare diseases that affect 7% of the world\u2019s population. Many patients with rare diseases have suffered the consequences of what is called the diagnostic odyssey, that is, extensive and prolonged serial tests and clinical visits, sometimes for many years, all with the hope of identifying the etiology of their disease. For patients with rare diseases, obtaining the genetic diagnosis can mean the end of the diagnostic odyssey, and the beginning of another, the therapeutic odyssey. This scenario is especially challenging for the scientific community, since more than 90% of rare diseases do not currently have an effective treatment. This therapeutic failure in rare diseases means that new approaches are necessary. Our research group proposes that the use of precision or personalized medicine techniques can be an alternative to find potential therapies in these diseases. To this end, we propose that patients\u2019 own cells can be used to carry out personalized pharmacological screening for the identification of potential treatments.<\/jats:p>","DOI":"10.3390\/diseases8040042","type":"journal-article","created":{"date-parts":[[2020,11,13]],"date-time":"2020-11-13T08:44:02Z","timestamp":1605257042000},"page":"42","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Precision Medicine in Rare Diseases"],"prefix":"10.3390","volume":"8","author":[{"given":"Irene","family":"Villal\u00f3n-Garc\u00eda","sequence":"first","affiliation":[{"name":"Centro Andaluz de Biolog\u00eda del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigaci\u00f3n Biom\u00e9dica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"\u00c1lvarez-C\u00f3rdoba","sequence":"additional","affiliation":[{"name":"Centro Andaluz de Biolog\u00eda del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigaci\u00f3n Biom\u00e9dica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6260-7284","authenticated-orcid":false,"given":"Juan Miguel","family":"Su\u00e1rez-Rivero","sequence":"additional","affiliation":[{"name":"Centro Andaluz de Biolog\u00eda del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigaci\u00f3n Biom\u00e9dica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suleva","family":"Povea-Cabello","sequence":"additional","affiliation":[{"name":"Centro Andaluz de Biolog\u00eda del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigaci\u00f3n Biom\u00e9dica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Talaver\u00f3n-Rey","sequence":"additional","affiliation":[{"name":"Centro Andaluz de Biolog\u00eda del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigaci\u00f3n Biom\u00e9dica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandra","family":"Su\u00e1rez-Carrillo","sequence":"additional","affiliation":[{"name":"Centro Andaluz de Biolog\u00eda del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigaci\u00f3n Biom\u00e9dica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Munuera-Cabeza","sequence":"additional","affiliation":[{"name":"Centro Andaluz de Biolog\u00eda del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigaci\u00f3n Biom\u00e9dica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9705-1469","authenticated-orcid":false,"given":"Jos\u00e9 Antonio","family":"S\u00e1nchez-Alc\u00e1zar","sequence":"additional","affiliation":[{"name":"Centro Andaluz de Biolog\u00eda del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigaci\u00f3n Biom\u00e9dica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,11,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1038\/nrg.2016.86","article-title":"Towards precision medicine","volume":"17","author":"Ashley","year":"2016","journal-title":"Nat. Rev. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1007\/978-3-319-67144-4_22","article-title":"Personalized Medicine: What\u2019s in it for Rare Diseases?","volume":"1031","author":"Mahlmann","year":"2017","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.mcp.2018.01.001","article-title":"Modeling rare diseases with induced pluripotent stem cell technology","volume":"40","author":"Anderson","year":"2018","journal-title":"Mol. Cell. Probes"},{"key":"ref_4","first-page":"19","article-title":"Direct reprogramming of adult cells: Avoiding the pluripotent state","volume":"7","author":"Kelaini","year":"2014","journal-title":"Stem Cells Cloning Adv. Appl."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/j.cell.2007.11.019","article-title":"Induction of pluripotent stem cells from adult human fibroblasts by defined factors","volume":"131","author":"Takahashi","year":"2007","journal-title":"Cell"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"108533","DOI":"10.1016\/j.jneumeth.2019.108533","article-title":"iPSC modeling of rare pediatric disorders","volume":"332","author":"Freel","year":"2020","journal-title":"J. Neurosci. Methods"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1242\/dmm.029009","article-title":"Induced pluripotent stem cell models of lysosomal storage disorders","volume":"10","author":"Borger","year":"2017","journal-title":"Dis. Models Amp. Mech."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Doss, M.X., and Sachinidis, A. (2019). Current Challenges of iPSC-Based Disease Modeling and Therapeutic Implications. Cells, 8.","DOI":"10.3390\/cells8050403"},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Suhr, S.T., Chang, E.A., Tjong, J., Alcasid, N., Perkins, G.A., Goissis, M.D., Ellisman, M.H., Perez, G.I., and Cibelli, J.B. (2010). Mitochondrial rejuvenation after induced pluripotency. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0014095"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1038\/nbt.2473","article-title":"Human embryonic stem cells commonly display large mitochondrial DNA deletions","volume":"31","author":"Spits","year":"2013","journal-title":"Nat. Biotechnol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"530","DOI":"10.3389\/fnins.2017.00530","article-title":"Direct Neuronal Reprogramming for Disease Modeling Studies Using Patient-Derived Neurons: What Have We Learned?","volume":"11","author":"Pircs","year":"2017","journal-title":"Front. Neurosci."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1038\/nature08797","article-title":"Direct conversion of fibroblasts to functional neurons by defined factors","volume":"463","author":"Vierbuchen","year":"2010","journal-title":"Nature"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1038\/nature10202","article-title":"Induction of human neuronal cells by defined transcription factors","volume":"476","author":"Pang","year":"2011","journal-title":"Nature"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.neures.2015.07.011","article-title":"Enhanced conversion of induced neuronal cells (iN cells) from human fibroblasts: Utility in uncovering cellular deficits in mental illness-associated chromosomal abnormalities","volume":"101","author":"Passeri","year":"2015","journal-title":"Neurosci. Res."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"3311","DOI":"10.4161\/cc.10.19.17584","article-title":"Efficient induction of functional neurons from adult human fibroblasts","volume":"10","author":"Pfisterer","year":"2011","journal-title":"Cell Cycle"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1038\/nature10284","article-title":"Direct generation of functional dopaminergic neurons from mouse and human fibroblasts","volume":"476","author":"Caiazzo","year":"2011","journal-title":"Nature"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/nrm3543","article-title":"Leveling Waddington: The emergence of direct programming and the loss of cell fate hierarchies","volume":"14","author":"Ladewig","year":"2013","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1038\/nature10323","article-title":"MicroRNA-mediated conversion of human fibroblasts to neurons","volume":"476","author":"Yoo","year":"2011","journal-title":"Nature"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1038\/s41419-018-0891-4","article-title":"Transdifferentiation: A new promise for neurodegenerative diseases","volume":"9","author":"Mollinari","year":"2018","journal-title":"Cell Death Dis."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1038\/nprot.2015.102","article-title":"MicroRNA-based conversion of human fibroblasts into striatal medium spiny neurons","volume":"10","author":"Richner","year":"2015","journal-title":"Nat. Protoc."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/j.neuron.2014.10.016","article-title":"Generation of human striatal neurons by microRNA-dependent direct conversion of fibroblasts","volume":"84","author":"Victor","year":"2014","journal-title":"Neuron"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.cell.2012.11.045","article-title":"Direct conversion of fibroblasts to neurons by reprogramming PTB-regulated microRNA circuits","volume":"152","author":"Xue","year":"2013","journal-title":"Cell"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1242\/dev.028548","article-title":"REST selectively represses a subset of RE1-containing neuronal genes in mouse embryonic stem cells","volume":"136","author":"Jorgensen","year":"2009","journal-title":"Development"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth.1972","article-title":"Small molecules enable highly efficient neuronal conversion of human fibroblasts","volume":"9","author":"Ladewig","year":"2012","journal-title":"Nat. Methods"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.stem.2015.07.006","article-title":"Direct Conversion of Normal and Alzheimer\u2019s Disease Human Fibroblasts into Neuronal Cells by Small Molecules","volume":"17","author":"Hu","year":"2015","journal-title":"Cell Stem Cell"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"2183","DOI":"10.1038\/ncomms3183","article-title":"Small molecules enable neurogenin 2 to efficiently convert human fibroblasts into cholinergic neurons","volume":"4","author":"Liu","year":"2013","journal-title":"Nat. Commun."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1089\/scd.2013.0131","article-title":"Generation of patient-specific induced neuronal cells using a direct reprogramming strategy","volume":"23","author":"Wang","year":"2014","journal-title":"Stem Cells Dev."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"713","DOI":"10.5966\/sctm.2013-0111","article-title":"Signaling adaptor protein SH2B1 enhances neurite outgrowth and accelerates the maturation of human induced neurons","volume":"3","author":"Hsu","year":"2014","journal-title":"Stem Cells Transl. Med."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/mp.2015.101","article-title":"Direct conversion of human fibroblasts to induced serotonergic neurons","volume":"21","author":"Xu","year":"2016","journal-title":"Mol. Psychiatry"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/j.stem.2015.09.001","article-title":"Directly Reprogrammed Human Neurons Retain Aging-Associated Transcriptomic Signatures and Reveal Age-Related Nucleocytoplasmic Defects","volume":"17","author":"Mertens","year":"2015","journal-title":"Cell Stem Cell"},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Huh, C.J., Zhang, B., Victor, M.B., Dahiya, S., Batista, L.F., Horvath, S., and Yoo, A.S. (2016). Maintenance of age in human neurons generated by microRNA-based neuronal conversion of fibroblasts. eLife, 5.","DOI":"10.7554\/eLife.18648"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"R115","DOI":"10.1186\/gb-2013-14-10-r115","article-title":"DNA methylation age of human tissues and cell types","volume":"14","author":"Horvath","year":"2013","journal-title":"Genome Biol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1038\/nbt.1554","article-title":"Variation in the safety of induced pluripotent stem cell lines","volume":"27","author":"Miura","year":"2009","journal-title":"Nat. Biotechnol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"7038","DOI":"10.1073\/pnas.1303829110","article-title":"Generation of induced neurons via direct conversion in vivo","volume":"110","author":"Torper","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1016\/j.cell.2014.01.020","article-title":"Nonstochastic reprogramming from a privileged somatic cell state","volume":"156","author":"Guo","year":"2014","journal-title":"Cell"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1038\/ncomms2059","article-title":"A kinase inhibitor screen identifies small-molecule enhancers of reprogramming and iPS cell generation","volume":"3","author":"Li","year":"2012","journal-title":"Nat. Commun."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1080\/15384101.2015.1012875","article-title":"Cell divisions are not essential for the direct conversion of fibroblasts into neuronal cells","volume":"14","author":"Fishman","year":"2015","journal-title":"Cell Cycle"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.stem.2015.05.014","article-title":"Transcriptional Mechanisms of Proneural Factors and REST in Regulating Neuronal Reprogramming of Astrocytes","volume":"17","author":"Masserdotti","year":"2015","journal-title":"Cell Stem Cell"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"12560","DOI":"10.1523\/JNEUROSCI.3159-13.2014","article-title":"The Ink4a\/Arf locus is a barrier to direct neuronal transdifferentiation","volume":"34","author":"Price","year":"2014","journal-title":"J. Neurosci."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.15252\/emmm.201607471","article-title":"REST suppression mediates neural conversion of adult human fibroblasts via microRNA-dependent and -independent pathways","volume":"9","author":"Lau","year":"2017","journal-title":"EMBO Mol. Med."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"10945","DOI":"10.18632\/oncotarget.14641","article-title":"Modeling the phenotype of spinal muscular atrophy by the direct conversion of human fibroblasts to motor neurons","volume":"8","author":"Zhang","year":"2017","journal-title":"Oncotarget"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/s13024-016-0075-6","article-title":"Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis","volume":"11","author":"Lim","year":"2016","journal-title":"Mol. Neurodegener"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1038\/mp.2014.176","article-title":"Dysregulation of miR-34a links neuronal development to genetic risk factors for bipolar disorder","volume":"20","author":"Bavamian","year":"2015","journal-title":"Mol. Psychiatry"},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Liu, Y., Xue, Y., Ridley, S., Zhang, D., Rezvani, K., Fu, X.D., and Wang, H. (2014). Direct reprogramming of Huntington\u2019s disease patient fibroblasts into neuron-like cells leads to abnormal neurite outgrowth, increased cell death, and aggregate formation. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0109621"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1093\/brain\/aww261","article-title":"Heterozygous PINK1 p.G411S increases risk of Parkinson\u2019s disease via a dominant-negative mechanism","volume":"140","author":"Puschmann","year":"2017","journal-title":"Brain"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.nbd.2015.02.030","article-title":"Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients","volume":"81","author":"Santambrogio","year":"2015","journal-title":"Neurobiol. Dis."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"2865","DOI":"10.1038\/s41467-018-05209-1","article-title":"Direct reprogramming of fibroblasts into neural stem cells by single non-neural progenitor transcription factor Ptf1a","volume":"9","author":"Xiao","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/S1474-4422(12)70295-8","article-title":"Fetal dopaminergic transplantation trials and the future of neural grafting in Parkinson\u2019s disease","volume":"12","author":"Barker","year":"2013","journal-title":"Lancet Neurol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1001\/jamaneurol.2013.4749","article-title":"Long-term clinical outcome of fetal cell transplantation for Parkinson disease: Two case reports","volume":"71","author":"Kefalopoulou","year":"2014","journal-title":"JAMA Neurol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/bs.pbr.2016.12.010","article-title":"Brain repair from intrinsic cell sources: Turning reactive glia into neurons","volume":"230","author":"Torper","year":"2017","journal-title":"Prog. Brain Res."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"18183","DOI":"10.1073\/pnas.0506535102","article-title":"Expression pattern of the transcription factor Olig2 in response to brain injuries: Implications for neuronal repair","volume":"102","author":"Buffo","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.stem.2017.06.011","article-title":"Direct Neuronal Reprogramming: Achievements, Hurdles, and New Roads to Success","volume":"21","author":"Gascon","year":"2017","journal-title":"Cell Stem Cell"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1038\/ncb2843","article-title":"In vivo reprogramming of astrocytes to neuroblasts in the adult brain","volume":"15","author":"Niu","year":"2013","journal-title":"Nat. Cell Biol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.stemcr.2015.03.006","article-title":"SOX2 reprograms resident astrocytes into neural progenitors in the adult brain","volume":"4","author":"Niu","year":"2015","journal-title":"Stem Cell Rep."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1016\/j.stemcr.2017.04.013","article-title":"NEUROD1 Instructs Neuronal Conversion in Non-Reactive Astrocytes","volume":"8","author":"Brulet","year":"2017","journal-title":"Stem Cell Rep."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.stem.2013.12.001","article-title":"In vivo direct reprogramming of reactive glial cells into functional neurons after brain injury and in an Alzheimer\u2019s disease model","volume":"14","author":"Guo","year":"2014","journal-title":"Cell Stem Cell"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"3338","DOI":"10.1038\/ncomms4338","article-title":"In vivo conversion of astrocytes to neurons in the injured adult spinal cord","volume":"5","author":"Su","year":"2014","journal-title":"Nat. Commun."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/j.celrep.2016.09.038","article-title":"The p53 Pathway Controls SOX2-Mediated Reprogramming in the Adult Mouse Spinal Cord","volume":"17","author":"Wang","year":"2016","journal-title":"Cell Rep."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1016\/j.stemcr.2014.10.007","article-title":"Sox2-mediated conversion of NG2 glia into induced neurons in the injured adult cerebral cortex","volume":"3","author":"Heinrich","year":"2014","journal-title":"Stem Cell Rep."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"2373","DOI":"10.1038\/ncomms3373","article-title":"Environmental impact on direct neuronal reprogramming in vivo in the adult brain","volume":"4","author":"Grande","year":"2013","journal-title":"Nat. Commun."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.stem.2015.12.003","article-title":"Identification and Successful Negotiation of a Metabolic Checkpoint in Direct Neuronal Reprogramming","volume":"18","author":"Gascon","year":"2016","journal-title":"Cell Stem Cell"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/nbt.3835","article-title":"Induction of functional dopamine neurons from human astrocytes in vitro and mouse astrocytes in a Parkinson\u2019s disease model","volume":"35","author":"Romanov","year":"2017","journal-title":"Nat. Biotechnol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.ejpn.2018.01.008","article-title":"Classification and molecular pathogenesis of NBIA syndromes","volume":"22","author":"Tiranti","year":"2018","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/glia.20901","article-title":"The putative heme transporter HCP1 is expressed in cultured astrocytes and contributes to the uptake of hemin","volume":"58","author":"Dang","year":"2010","journal-title":"Glia"},{"key":"ref_65","doi-asserted-by":"crossref","unstructured":"Alvarez-Cordoba, M., Fernandez Khoury, A., Villanueva-Paz, M., Gomez-Navarro, C., Villalon-Garcia, I., Suarez-Rivero, J.M., Povea-Cabello, S., de la Mata, M., Cotan, D., and Talaveron-Rey, M. (2018). Pantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation. Mol. Neurobiol.","DOI":"10.1007\/s12035-018-1333-0"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"34900","DOI":"10.1074\/jbc.M114.586362","article-title":"Conformational response to ligand binding in phosphomannomutase2: Insights into inborn glycosylation disorder","volume":"289","author":"Andreotti","year":"2014","journal-title":"J. Biol. Chem."},{"key":"ref_67","doi-asserted-by":"crossref","unstructured":"Goldin, E., Zheng, W., Motabar, O., Southall, N., Choi, J.H., Marugan, J., Austin, C.P., and Sidransky, E. (2012). High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0029861"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"7172","DOI":"10.1073\/pnas.1015723108","article-title":"Rescue of expression and signaling of human luteinizing hormone G protein-coupled receptor mutants with an allosterically binding small-molecule agonist","volume":"108","author":"Newton","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/1750-1172-5-36","article-title":"Prediction of the responsiveness to pharmacological chaperones: Lysosomal human alpha-galactosidase, a case of study","volume":"5","author":"Andreotti","year":"2010","journal-title":"Orphanet. J. Rare Dis."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.4103\/1673-5374.251203","article-title":"Precision medicine in pantothenate kinase-associated neurodegeneration","volume":"14","year":"2019","journal-title":"Neural Regen. Res."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/s13023-015-0273-2","article-title":"Drug repositioning can accelerate discovery of pharmacological chaperones","volume":"10","author":"Citro","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1159\/000107530","article-title":"Altered biogenesis of deltaF508-CFTR following treatment with doxorubicin","volume":"20","author":"Maitra","year":"2007","journal-title":"Cell. Phys. Biochem."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.ymgme.2008.12.008","article-title":"Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells","volume":"96","author":"Rigat","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.bcmd.2012.10.007","article-title":"Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase","volume":"50","author":"Maor","year":"2013","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"2201","DOI":"10.1038\/mt.2012.152","article-title":"Pharmacological enhancement of alpha-glucosidase by the allosteric chaperone N-acetylcysteine","volume":"20","author":"Porto","year":"2012","journal-title":"Mol. Ther."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"9150","DOI":"10.1074\/jbc.M609304200","article-title":"Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis","volume":"282","author":"Maegawa","year":"2007","journal-title":"J. Biol. Chem."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"386","DOI":"10.3389\/fphys.2013.00386","article-title":"Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels","volume":"4","author":"Martin","year":"2013","journal-title":"Front. Physiol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.heares.2010.08.015","article-title":"Salicylate restores transport function and anion exchanger activity of missense pendrin mutations","volume":"270","author":"Ishihara","year":"2010","journal-title":"Hear. Res."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"4399","DOI":"10.1038\/s41467-018-06703-2","article-title":"A therapeutic approach to pantothenate kinase associated neurodegeneration","volume":"9","author":"Sharma","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"701","DOI":"10.3389\/fneur.2018.00701","article-title":"Application of Precision Medicine in Neurodegenerative Diseases","volume":"9","author":"Strafella","year":"2018","journal-title":"Front. Neurol."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"16080","DOI":"10.1038\/nrdp.2016.80","article-title":"Mitochondrial diseases","volume":"2","author":"Gorman","year":"2016","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_82","doi-asserted-by":"crossref","unstructured":"Chinnery, P., Majamaa, K., Turnbull, D., and Thorburn, D. (2006). Treatment for mitochondrial disorders. Cochrane Database Syst. Rev.","DOI":"10.1002\/14651858.CD004426.pub2"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1093\/toxsci\/kfm052","article-title":"Circumventing the Crabtree effect: Replacing media glucose with galactose increases susceptibility of HepG2 cells to mitochondrial toxicants","volume":"97","author":"Marroquin","year":"2007","journal-title":"Toxicol. Sci. Off. J. Soc. Toxicol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/0885-4505(92)90056-5","article-title":"Nonviability of cells with oxidative defects in galactose medium: A screening test for affected patient fibroblasts","volume":"48","author":"Robinson","year":"1992","journal-title":"Biochem. Med. Metab. Biol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.ymgme.2011.07.016","article-title":"The use of individual patient\u2019s fibroblasts in the search for personalized treatment of nuclear encoded OXPHOS diseases","volume":"104","author":"Saada","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"ref_86","first-page":"39","article-title":"Mitochondria: Mitochondrial OXPHOS dysfunction ex vivo\u2014The use of primary fibroblasts","volume":"104","author":"Saada","year":"2014","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/nature13394","article-title":"Genome sequencing identifies major causes of severe intellectual disability","volume":"511","author":"Gilissen","year":"2014","journal-title":"Nature"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"e903","DOI":"10.1542\/peds.2014-1839","article-title":"Comprehensive evaluation of the child with intellectual disability or global developmental delays","volume":"134","author":"Moeschler","year":"2014","journal-title":"Pediatrics"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1146\/annurev-genom-090613-094245","article-title":"Mendelian disorders of the epigenetic machinery: Tipping the balance of chromatin states","volume":"15","author":"Fahrner","year":"2014","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"5395","DOI":"10.1038\/sj.onc.1210608","article-title":"The MYST family of histone acetyltransferases and their intimate links to cancer","volume":"26","author":"Avvakumov","year":"2007","journal-title":"Oncogene"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/j.devcel.2009.10.006","article-title":"Moz and retinoic acid coordinately regulate H3K9 acetylation, Hox gene expression, and segment identity","volume":"17","author":"Voss","year":"2009","journal-title":"Dev. Cell"},{"key":"ref_92","unstructured":"Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., and Kamien, B. (2018). KAT6A Syndrome: Genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1002\/ajmg.a.61063","article-title":"39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting","volume":"6","author":"Boycott","year":"2019","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.nmd.2013.11.003","article-title":"Approach to the diagnosis of congenital myopathies","volume":"24","author":"North","year":"2014","journal-title":"Neuromuscul. Disord."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1111\/dmcn.14365","article-title":"Congenital myopathies: An update","volume":"62","author":"Claeys","year":"2020","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1093\/brain\/86.4.793","article-title":"Nemaline Myopathy. A New Congenital Myopathy","volume":"86","author":"Shy","year":"1963","journal-title":"Brain"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/S1471-4914(01)02089-5","article-title":"Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments","volume":"7","author":"Sanoudou","year":"2001","journal-title":"Trends Mol. Med."},{"key":"ref_98","first-page":"5477","article-title":"The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse","volume":"126","author":"Yamamoto","year":"2013","journal-title":"J. Cell Sci."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/B978-0-444-64076-5.00036-3","article-title":"The genetics of congenital myopathies","volume":"148","author":"Gonorazky","year":"2018","journal-title":"Handb. Clin. Neurol."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1016\/j.stemcr.2018.04.009","article-title":"Direct Reprogramming of Mouse Fibroblasts into Functional Skeletal Muscle Progenitors","volume":"10","author":"Gerli","year":"2018","journal-title":"Stem Cell Rep."},{"key":"ref_101","first-page":"122","article-title":"Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy","volume":"35","author":"Bello","year":"2016","journal-title":"Acta Myol."}],"container-title":["Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2079-9721\/8\/4\/42\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T10:33:02Z","timestamp":1760178782000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2079-9721\/8\/4\/42"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,13]]},"references-count":101,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020,12]]}},"alternative-id":["diseases8040042"],"URL":"https:\/\/doi.org\/10.3390\/diseases8040042","relation":{},"ISSN":["2079-9721"],"issn-type":[{"value":"2079-9721","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,13]]}}}