{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T18:51:12Z","timestamp":1767984672762,"version":"3.49.0"},"reference-count":62,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,12,15]],"date-time":"2022-12-15T00:00:00Z","timestamp":1671062400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Science Centre","award":["2018\/29\/B\/NZ5\/00330"],"award-info":[{"award-number":["2018\/29\/B\/NZ5\/00330"]}]},{"name":"National Science Centre","award":["2015\/19\/B\/NZ5\/02243"],"award-info":[{"award-number":["2015\/19\/B\/NZ5\/02243"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Alstr\u00f6m syndrome (ALMS) and Bardet\u2013Biedl syndrome (BBS) are rare genetic diseases with a number of common clinical features ranging from early-childhood obesity and retinal degeneration. ALMS and BBS belong to the ciliopathies, which are known to have the expression products of genes, encoding them as cilia-localized proteins in multiple target organs. The aim of this study was to perform transcriptomic and proteomic analysis on cellular models of ALMS and BBS syndromes to identify common and distinct pathological mechanisms present in both syndromes. For this purpose, epithelial cells were isolated from the urine of patients and healthy subjects, which were then cultured and reprogrammed into induced pluripotent stem (iPS) cells. The pathways of genes associated with the metabolism of lipids and glycosaminoglycan and the transport of small molecules were found to be concomitantly downregulated in both diseases, while transcripts related to signal transduction, the immune system, cell cycle control and DNA replication and repair were upregulated. Furthermore, protein pathways associated with autophagy, apoptosis, cilium assembly and Gli1 protein were upregulated in both ciliopathies. These results provide new insights into the common and divergent pathogenic pathways between two similar genetic syndromes, particularly in relation to primary cilium function and abnormalities in cell differentiation.<\/jats:p>","DOI":"10.3390\/genes13122370","type":"journal-article","created":{"date-parts":[[2022,12,15]],"date-time":"2022-12-15T04:54:14Z","timestamp":1671080054000},"page":"2370","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Proteomic and Transcriptomic Landscapes of Alstr\u00f6m and Bardet\u2013Biedl Syndromes"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1399-457X","authenticated-orcid":false,"given":"Urszula","family":"Smyczynska","sequence":"first","affiliation":[{"name":"Department of Biostatistics and Translational Medicine, Medical University of Lodz, 92-215 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcin","family":"Stanczak","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Translational Medicine, Medical University of Lodz, 92-215 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miljan","family":"Kuljanin","sequence":"additional","affiliation":[{"name":"Department of Radiation Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9390-5639","authenticated-orcid":false,"given":"Aneta","family":"W\u0142odarczyk","sequence":"additional","affiliation":[{"name":"Department of Tumor Biology, Medical University of Lodz, 90-752 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewelina","family":"Stoczynska-Fidelus","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Medical University of Lodz, 90-752 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Taha","sequence":"additional","affiliation":[{"name":"Central Laboratory for Genetic Research in Pediatric Oncology \u201cOncolab\u201d, Medical University of Lodz, 90-752 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8803-1033","authenticated-orcid":false,"given":"Bart\u0142omiej","family":"Pawlik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, 90-752 Lodz, Poland"},{"name":"Postgraduate School of Molecular Medicine, Medical University of Warsaw, 02-004 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maciej","family":"Borowiec","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Medical University of Lodz, 90-419 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph D.","family":"Mancias","sequence":"additional","affiliation":[{"name":"Department of Radiation Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2714-5851","authenticated-orcid":false,"given":"Wojciech","family":"Mlynarski","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, 90-752 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2970-0970","authenticated-orcid":false,"given":"Piotr","family":"Rieske","sequence":"additional","affiliation":[{"name":"Department of Tumor Biology, Medical University of Lodz, 90-752 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wojciech","family":"Fendler","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Translational Medicine, Medical University of Lodz, 92-215 Lodz, Poland"},{"name":"Department of Radiation Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8781-4469","authenticated-orcid":false,"given":"Agnieszka","family":"Zmys\u0142owska","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Medical University of Lodz, 90-419 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1001\/archinte.165.6.675","article-title":"New Alstr\u00f6m Syndrome Phenotypes Based on the Evaluation of 182 Cases","volume":"165","author":"Marshall","year":"2005","journal-title":"Arch. Intern. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"225","DOI":"10.2174\/138920211795677912","article-title":"Alstrom Syndrome: Genetics and Clinical Overview","volume":"12","author":"Marshall","year":"2011","journal-title":"Curr. Genom."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/1824-7288-40-33","article-title":"Syndromic obesity: Clinical implications of a correct diagnosis","volume":"40","author":"Milani","year":"2014","journal-title":"Ital. J. Pediatr."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1038\/ng867","article-title":"Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstr\u00f6m syndrome","volume":"31","author":"Collin","year":"2002","journal-title":"Nat. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1002\/humu.22796","article-title":"Alstr\u00f6m Syndrome: Mutation Spectrum of ALMS1","volume":"36","author":"Marshall","year":"2015","journal-title":"Hum. Mutat."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"620","DOI":"10.4103\/0301-4738.194328","article-title":"Bardet\u2013Biedl syndrome: Genetics, molecular pathophysiology, and disease management","volume":"64","author":"Priya","year":"2016","journal-title":"Indian J. Ophthalmol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1136\/jmedgenet-2015-103099","article-title":"Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families","volume":"52","author":"Satta","year":"2015","journal-title":"J. Med. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/ejhg.2012.115","article-title":"Bardet\u2013Biedl syndrome","volume":"21","author":"Forsythe","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1111\/cge.12373","article-title":"Genetic predictors of cardiovascular morbidity in Bardet\u2013Biedl syndrome","volume":"87","author":"Forsythe","year":"2015","journal-title":"Clin. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Esposito, G., Testa, F., Zacchia, M., Crispo, A.A., Di Iorio, V., Capolongo, G., Rinaldi, L., D\u2019Antonio, M., Fioretti, T., and Iadicicco, P. (2017). Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: Identification of eleven novel pathogenic sequence variants. BMC Med. Genet., 18.","DOI":"10.1186\/s12881-017-0372-0"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"23","DOI":"10.3389\/fped.2018.00023","article-title":"Managing Bardet\u2013Biedl Syndrome\u2014Now and in the Future","volume":"6","author":"Forsythe","year":"2018","journal-title":"Front. Ped."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.2337\/diabetes.54.5.1581","article-title":"Subcellular Localization of ALMS1 Supports Involvement of Centrosome and Basal Body Dysfunction in the Pathogenesis of Obesity, Insulin Resistance, and Type 2 Diabetes","volume":"54","author":"Hearn","year":"2005","journal-title":"Diabetes"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"3617","DOI":"10.1091\/mbc.e10-03-0246","article-title":"Centriolar Association of ALMS1 and Likely Centrosomal Functions of the ALMS Motif\u2013containing Proteins C10orf90 and KIAA1731","volume":"21","author":"Knorz","year":"2010","journal-title":"Mol. Biol. Cell"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2323","DOI":"10.1093\/hmg\/ddi235","article-title":"Alms1-disrupted mice recapitulate human Alstr\u00f6m syndrome","volume":"14","author":"Collin","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Collin, G.B., Marshall, J.D., King, B.L., Milan, G., Maffei, P., Jagger, D.J., and Naggert, J.K. (2012). The Alstr\u00f6m Syndrome Protein, ALMS1, Interacts with \u03b1-Actinin and Components of the Endosome Recycling Pathway. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0037925"},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Starks, R.D., Beyer, A.M., Guo, D.F., Boland, L., Zhang, Q., Sheffield, V.C., and Rahmouni, K. (2015). Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins. PLoS Genet., 11.","DOI":"10.1371\/journal.pgen.1005311"},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Nozaki, S., Katoh, Y., Kobayashi, T., and Nakayama, K. (2018). BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0195005"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"e53910","DOI":"10.7554\/eLife.53910","article-title":"Structure of the human BBSome core complex","volume":"9","author":"Klink","year":"2020","journal-title":"eLife"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"117","DOI":"10.4093\/dmj.2018.42.2.117","article-title":"Primary Cilia as a Signaling Platform for Control of Energy Metabolism","volume":"42","author":"Song","year":"2018","journal-title":"Diabetes Metab. J."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1017\/S0007114516002282","article-title":"The cilium: A cellular antenna with an influence on obesity risk","volume":"116","author":"Mariman","year":"2016","journal-title":"Br. J. Nutr."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"a028175","DOI":"10.1101\/cshperspect.a028175","article-title":"Primary Cilia and Mammalian Hedgehog Signaling","volume":"9","author":"Bangs","year":"2017","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1016\/j.ekir.2020.06.017","article-title":"Exploring Key Challenges of Understanding the Pathogenesis of Kidney Disease in Bardet\u2013Biedl Syndrome","volume":"5","author":"Marchese","year":"2020","journal-title":"Kidney Int. Rep."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Scesa, G., Adami, R., and Bottai, D. (2021). iPSC Preparation and Epigenetic Memory: Does the Tissue Origin Matter?. Cells, 10.","DOI":"10.3390\/cells10061470"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13287-015-0112-3","article-title":"Generation of human iPSCs from cells of fibroblastic and epithelial origin by means of the oriP\/EBNA-1 episomal reprogramming system","volume":"6","author":"Drozd","year":"2015","journal-title":"Stem Cell Res. Ther."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1111\/cge.12656","article-title":"Genetic evaluation of patients with Alstr\u00f6m syndrome in the Polish population","volume":"89","author":"Zmyslowska","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Jeziorny, K., Antosik, K., Jakiel, P., M\u0142ynarski, W., Borowiec, M., and Zmys\u0142owska, A. (2020). Next-Generation Sequencing in the Diagnosis of Patients with Bardet\u2013Biedl Syndrome\u2014New Variants and Relationship with Hyperglycemia and Insulin Resistance. Genes, 11.","DOI":"10.3390\/genes11111283"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"2080","DOI":"10.1038\/nprot.2012.115","article-title":"Generation of human induced pluripotent stem cells from urine samples","volume":"7","author":"Zhou","year":"2012","journal-title":"Nat. Protoc."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1186\/s13287-022-02886-0","article-title":"Regeneration difficulties in patients with FQAD can limit the use of iPSc-based cell therapy","volume":"13","author":"Grot","year":"2022","journal-title":"Stem Cell Res. Ther."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12964-021-00791-2","article-title":"Multiomic analysis on human cell model of wolfram syndrome reveals changes in mitochondrial morphology and function","volume":"19","author":"Zmyslowska","year":"2021","journal-title":"Cell Commun. Signal."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"7469","DOI":"10.1021\/ac301572t","article-title":"Increasing the Multiplexing Capacity of TMTs Using Reporter Ion Isotopologues with Isobaric Masses","volume":"84","author":"McAlister","year":"2012","journal-title":"Anal. Chem."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1038\/nbt1240","article-title":"A probability-based approach for high-throughput protein phosphorylation analysis and site localization","volume":"24","author":"Beausoleil","year":"2006","journal-title":"Nat. Biotechnol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1174","DOI":"10.1016\/j.cell.2010.12.001","article-title":"A Tissue-Specific Atlas of Mouse Protein Phosphorylation and Expression","volume":"143","author":"Huttlin","year":"2010","journal-title":"Cell"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1093\/nar\/gkv007","article-title":"limma powers differential expression analyses for RNA-sequencing and microarray studies","volume":"43","author":"Ritchie","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","article-title":"Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing","volume":"57","author":"Yoav","year":"1995","journal-title":"J. R. Stat. Soc. Ser. B"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"15545","DOI":"10.1073\/pnas.0506580102","article-title":"Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles","volume":"102","author":"Subramanian","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"2498","DOI":"10.1101\/gr.1239303","article-title":"Cytoscape: A software environment for integrated models of Biomolecular Interaction Networks","volume":"13","author":"Shannon","year":"2003","journal-title":"Genome Res."},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Merico, D., Isserlin, R., Stueker, O., Emili, A., and Bader, G.D. (2010). Enrichment Map: A Network-Based Method for Gene-Set Enrichment Visualization and Interpretation. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0013984"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1717","DOI":"10.12688\/f1000research.9090.1","article-title":"AutoAnnotate: A Cytoscape app for summarizing networks with semantic annotations","volume":"5","author":"Kucera","year":"2016","journal-title":"F1000Research"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"W486","DOI":"10.1093\/nar\/gky310","article-title":"MetaboAnalyst 4.0: Towards more transparent and integrative metabolomics analysis","volume":"46","author":"Chong","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1126\/science.1132939","article-title":"The Connectivity Map: Using gene-expression signatures to connect small molecules, genes, and disease","volume":"313","author":"Lamb","year":"2006","journal-title":"Science"},{"key":"ref_41","first-page":"4367019","article-title":"New Roles of the Primary Cilium in Autophagy","volume":"2017","author":"Budini","year":"2017","journal-title":"BioMed Res. Int."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Wiegering, A., R\u00fcther, U., and Gerhardt, C. (2019). The Role of Primary Cilia in the Crosstalk between the Ubiquitin\u2013Proteasome System and Autophagy. Cells, 8.","DOI":"10.3390\/cells8030241"},{"key":"ref_43","doi-asserted-by":"crossref","unstructured":"Hostelley, T.L., Lodh, S., and Zaghloul, N.A. (2016). Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alstr\u00f6m Syndrome provides mechanistic insight into shared and divergent phenotypes. BMC Genom., 17.","DOI":"10.1186\/s12864-016-2679-1"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"843794","DOI":"10.3389\/fnins.2022.843794","article-title":"Genetic Regulation of Vertebrate Forebrain Development by Homeobox Genes","volume":"16","author":"Leung","year":"2022","journal-title":"Front. Neurosci."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"e2103615119","DOI":"10.1073\/pnas.2103615119","article-title":"Primary cilia in satellite cells are the mechanical sensors for muscle hypertrophy","volume":"119","author":"Li","year":"2022","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/978-981-10-7311-3_13","article-title":"ZIC1 Function in Normal Cerebellar Development and Human Developmental Pathology","volume":"1046","author":"Aruga","year":"2018","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"100965","DOI":"10.1016\/j.molmet.2020.02.008","article-title":"Adipose TBX1 regulates \u03b2-adrenergic sensitivity in subcutaneous adipose tissue and thermogenic capacity in vivo","volume":"36","author":"Markan","year":"2020","journal-title":"Mol. Metab."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"6636","DOI":"10.1038\/s41467-021-26950-0","article-title":"Sequence logic at enhancers governs a dual mechanism of endodermal organ fate induction by FOXA pioneer factors","volume":"12","author":"Geusz","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"e64684","DOI":"10.7554\/eLife.64684","article-title":"Olig3 regulates early cerebellar development","volume":"10","author":"Lowenstein","year":"2021","journal-title":"eLife"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1007\/s00424-020-02456-4","article-title":"Activation of farnesoid X receptor (FXR) induces crystallin zeta expression in mouse medullary collecting duct cells","volume":"472","author":"Alam","year":"2020","journal-title":"Pflug. Arch."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"11433","DOI":"10.1074\/jbc.M204937200","article-title":"NAB2, a Corepressor of EGR-1, Inhibits Vascular Endothelial Growth Factor-mediated Gene Induction and Angiogenic Responses of Endothelial Cells","volume":"278","author":"Lucerna","year":"2003","journal-title":"J. Biol. Chem."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1002\/jnr.24666","article-title":"HSPGs glypican-1 and glypican-4 are human neuronal proteins characteristic of different neural phenotypes","volume":"98","author":"Oikari","year":"2020","journal-title":"J. Neurosci. Res."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1111\/cen.13435","article-title":"Serum glypican 4 level in obese children and its relation to degree of obesity","volume":"87","author":"Leelalertlauw","year":"2017","journal-title":"Clin. Endocrinol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1038\/s41586-020-2681-2","article-title":"The innate immunity protein IFITM3 modulates \u03b3-secretase in Alzheimer\u2019s disease","volume":"586","author":"Hur","year":"2020","journal-title":"Nature"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00109-018-1714-x","article-title":"ALMS1 and Alstr\u00f6m syndrome: A recessive form of metabolic, neurosensory and cardiac deficits","volume":"97","author":"Hearn","year":"2019","journal-title":"J. Mol. Med."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1016\/j.cell.2007.03.053","article-title":"A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis","volume":"129","author":"Nachury","year":"2007","journal-title":"Cell"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1038\/s41588-018-0054-7","article-title":"A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies","volume":"50","author":"Breslow","year":"2018","journal-title":"Nat. Genet."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"ENEURO.0276-21.2021","DOI":"10.1523\/ENEURO.0276-21.2021","article-title":"The Hedgehog Signaling Pathway is Expressed in the Adult Mouse Hypothalamus and Modulated by Fasting","volume":"8","author":"Antonellis","year":"2021","journal-title":"eNeuro"},{"key":"ref_59","doi-asserted-by":"crossref","unstructured":"Hey, C., Larsen, L., T\u00fcmer, Z., Br\u00f8ndum-Nielsen, K., Gr\u00f8nskov, K., Hjortsh\u00f8j, T., and M\u00f8ller, L. (2021). BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22031345"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1055\/s-0031-1280781","article-title":"Pharmacological Activation of Peroxisome Proliferator-activated Receptor \u03b4 Improves Insulin Resistance and Hepatic Steatosis in High Fat Diet-induced Diabetic Mice","volume":"43","author":"Wu","year":"2011","journal-title":"Horm. Metab. Res."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/S0014-5793(00)01554-4","article-title":"Activation of PPAR\u03b4 alters lipid metabolism in db\/db mice","volume":"473","author":"Leibowitz","year":"2000","journal-title":"FEBS Lett."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1124\/jpet.106.115758","article-title":"Neuroprotective Efficacy of the Peroxisome Proliferator-Activated Receptor \u03b4-Selective Agonists in Vitro and in Vivo","volume":"320","author":"Iwashita","year":"2006","journal-title":"J. Pharmacol. Exp. Ther."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/12\/2370\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:41:50Z","timestamp":1760146910000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/12\/2370"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,15]]},"references-count":62,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["genes13122370"],"URL":"https:\/\/doi.org\/10.3390\/genes13122370","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,15]]}}}