{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T23:07:51Z","timestamp":1792019271595,"version":"4.4.0"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"5","funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["ZIA HD001607"],"award-info":[{"award-number":["ZIA HD001607"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["OGB-177940"],"award-info":[{"award-number":["OGB-177940"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009408","name":"a Brain Canada scholarship","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009408","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004963","name":"European Union Seventh Framework Programme","doi-asserted-by":"publisher","award":["FP7\/2007-2013"],"award-info":[{"award-number":["FP7\/2007-2013"]}],"id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004963","name":"European Union Seventh Framework Programme","doi-asserted-by":"publisher","award":["305444"],"award-info":[{"award-number":["305444"]}],"id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007601","name":"Horizon 2020","doi-asserted-by":"publisher","award":["779257"],"award-info":[{"award-number":["779257"]}],"id":[{"id":"10.13039\/501100007601","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Reference Network(s) ITHACA"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>EIPR1 (EARP-interacting protein 1, formerly known as tumor suppressing subtransferable candidate 1 or TSSC1) is a WD40-domain protein that interacts with the EARP (endosome-associated recycling protein) and GARP (Golgi-associated retrograde protein) complexes in the process of delivering endosome-derived transmembrane cargos to the plasma membrane and the trans-Golgi network (TGN), respectively. Additionally, EIPR1 cooperates with EARP in the biogenesis of dense core vesicles. While these properties of EIPR1 were established in cultured cells and model organisms, the physiological and pathological importance of EIPR1 in humans remains to be determined.<\/jats:p>\n                  <jats:p>Here, we report the identification of five EIPR1 homozygous missense variants [NM_003310.5:c.835C&amp;gt;G p.(Arg279Gly), NM_003310.5:c.813C&amp;gt;G p.(His271Gln), NM_003310.5:c.694C&amp;gt;T p.(Arg232Trp), NM_003310.5:c.47G&amp;gt;A p.(Arg16His) and NM_003310.5:c.419T&amp;gt;A p.(Val140Asp)] in eight individuals from six unrelated families with a neurological disorder featuring a spectrum of global neurodevelopmental delay, microcephaly, ataxia, spasticity, delayed myelination, callosal hypoplasia, cerebellar atrophy, walking and speech impairments, dysmorphic facies and neutropenia.<\/jats:p>\n                  <jats:p>Cellular studies using a heterologous transfection system demonstrate that these variants reduce EIPR1 protein levels and its physical interaction with EARP and GARP complexes. Furthermore, we show that the Arg279Gly and His271Gln variants reduce the ability of EIPR1 to promote EARP association with endosomes in non-neuronal cells and dense core vesicle biogenesis in induced pluripotent stem cell-derived neurons. Additionally, skin fibroblasts from one of the Arg279Gly affected individuals shows reduced recycling of internalized transferrin to the plasma membrane (an EARP-deficiency phenotype) and impaired retrograde transport of internalized Shiga toxin B-subunit to the TGN (a GARP-deficiency phenotype) compared with fibroblasts from an unaffected parent. Moreover, these patient fibroblasts exhibit enlarged lysosomes, increased levels of the lysosomal membrane protein LAMP1, and increased levels of the autophagic markers LC3B-II and SQSTM1, all phenotypes previously associated with GARP deficiency. Knockout (KO) of the orthologous eipr1 in zebrafish results in neurodevelopmental and locomotor defects consistent with the clinical phenotype of the human patients. Injection of wild-type human EIPR1 mRNA into eipr1 KO zebrafish rescues these defects, whereas mRNAs encoding the human EIPR1 variants Arg279Gly or His271Gln fail to do so, confirming the impaired activity of these variants.<\/jats:p>\n                  <jats:p>These findings identify EIPR1 as a novel genetic locus associated with a neurodevelopmental disorder and underscore its critical role in endosomal recycling and dense core vesicle biogenesis, processes essential for the development and function of the nervous system.<\/jats:p>","DOI":"10.1093\/brain\/awaf371","type":"journal-article","created":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T11:46:11Z","timestamp":1759578371000},"page":"1568-1585","source":"Crossref","is-referenced-by-count":1,"title":["<i>EIPR1<\/i>\n                    variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects"],"prefix":"10.1093","volume":"149","author":[{"given":"Saikat","family":"Ghosh","sequence":"first","affiliation":[{"name":"Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaskaran","family":"Singh","sequence":"additional","affiliation":[{"name":"INRS\u2013Centre Armand Frappier Sant\u00e9 Biotechnologie , Laval, QC H7V 1B7 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadirah S","family":"Damseh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics & Genetics, Makassed Hospital, Al-Quds Medical School , East Jerusalem 95908 ,","place":["Palestine"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4730-5322","authenticated-orcid":false,"given":"Mariasavina","family":"Severino","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit, IRCCS Istituto Giannina Gaslini , Genoa 16147 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"De Pace","sequence":"additional","affiliation":[{"name":"Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana E","family":"Golding","sequence":"additional","affiliation":[{"name":"Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Jarnik","sequence":"additional","affiliation":[{"name":"Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Poonam","family":"Thakran","sequence":"additional","affiliation":[{"name":"National Heart Lung and Blood Institute, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bourgogne Europe, CHU Dijon Bourgogne, Centre de G\u00e9n\u00e9tique M\u00e9dicale, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs, Centre de R\u00e9f\u00e9rence D\u00e9ficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, Centre de Recherche Translationnelle en M\u00e9decine Mol\u00e9culaire\u2013Inserm UMR1231 \u00e9quipe GAD , Dijon 21070 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jade","family":"Heitz","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bourgogne Europe, CHU Dijon Bourgogne, Centre de G\u00e9n\u00e9tique M\u00e9dicale, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs, Centre de R\u00e9f\u00e9rence D\u00e9ficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, Centre de Recherche Translationnelle en M\u00e9decine Mol\u00e9culaire\u2013Inserm UMR1231 \u00e9quipe GAD , Dijon 21070 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8986-8222","authenticated-orcid":false,"given":"Anne-Sophie","family":"Denomm\u00e9-Pichon","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de G\u00e9nomique M\u00e9dicale, FHU-TRANSLAD, Centre de Recherche Translationnelle en M\u00e9decine Mol\u00e9culaire\u2013Inserm UMR1231 \u00e9quipe GAD , Dijon 21070 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3717-8374","authenticated-orcid":false,"given":"Antonio","family":"Vitobello","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de G\u00e9nomique M\u00e9dicale, FHU-TRANSLAD, Centre de Recherche Translationnelle en M\u00e9decine Mol\u00e9culaire\u2013Inserm UMR1231 \u00e9quipe GAD , Dijon 21070 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lama","family":"AlAbdi","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center , Riyadh 12713 ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Firdous","family":"Abdulwahab","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center , Riyadh 12713 ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safia","family":"Sumayli","sequence":"additional","affiliation":[{"name":"Department of Medicine, Allergy and Immunology Section, King Faisal Specialist Hospital and Research Centre , Riyadh 12713 ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mashael","family":"Alqahtani","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center , Riyadh 12713 ,","place":["Saudi Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huma Arshad","family":"Cheema","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology, Hepatology and Genetic Diseases, Children\u2019s Hospital, University of Child Health Sciences , Lahore, Punjab 54000 ,","place":["Pakistan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iram","family":"Javed","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Children Hospital and Institute of Child Health , Faisalabad 38000 ,","place":["Pakistan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JiHye","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, 3billion, Inc. , Seoul 06160 ,","place":["South Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine, Children\u2019s Hospital of Eastern Ontario Research Institute, The Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa , Ottawa, Ontario , K1H 8L1","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hagar","family":"Mor-Shaked","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hadassah Medical Center , Jerusalem 91120 ,","place":["Israel"]},{"name":"Faculty of Medicine, Hebrew University of Jerusalem , Jerusalem 91120 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer E","family":"Neil","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children\u2019s Hospital , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ganeshwaran H","family":"Mochida","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children\u2019s Hospital , Boston, MA 02115 ,","place":["USA"]},{"name":"Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital , Boston, MA 02115 ,","place":["USA"]},{"name":"Department of Neurology, Pediatric Neurology Unit, Massachusetts General Hospital , Boston, MA 02114 ,","place":["USA"]},{"name":"Department of Pediatrics, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Zifarelli","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , Rostock 18055 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , Rostock 18055 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan","family":"Barkhordari","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan","family":"Ghayoor Karimiani","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bassam","family":"Abu-Libdeh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics & Genetics, Makassed Hospital, Al-Quds Medical School , East Jerusalem 95908 ,","place":["Palestine"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Edvardson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neuropediatric Unit, Hadassah-Hebrew University Medical Center , Jerusalem 91120 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orly","family":"Elpeleg","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hadassah Medical Center , Jerusalem 91120 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6763-1542","authenticated-orcid":false,"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunmoogum A","family":"Patten","sequence":"additional","affiliation":[{"name":"INRS\u2013Centre Armand Frappier Sant\u00e9 Biotechnologie , Laval, QC H7V 1B7 ,","place":["Canada"]},{"name":"Departement de Neurosciences, Universit\u00e9 de Montr\u00e9al , Montr\u00e9al, QC , H3C 3J7","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan S","family":"Bonifacino","sequence":"additional","affiliation":[{"name":"Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,10,7]]},"reference":[{"key":"2026050508323996600_awaf371-B1","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1006\/geno.1997.4981","article-title":"A 2.5-Mb transcript map of a tumor-suppressing subchromosomal transferable fragment from 11p15.5, and isolation and sequence analysis of three novel 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