{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10(1)"],"submitter":["Fichtman B"],"pubmed_abstract":["Nuclear envelopathies comprise a heterogeneous group of diseases caused by mutations in genes encoding nuclear envelope proteins. Mutations affecting lamina-associated polypeptide 1 (LAP1) result in two discrete phenotypes of muscular dystrophy and progressive dystonia with cerebellar atrophy. We report 7 patients presenting at birth with severe progressive neurological impairment, bilateral cataract, growth retardation and early lethality. All the patients are homozygous for a nonsense mutation in the TOR1AIP1 gene resulting in the loss of both protein isoforms LAP1B and LAP1C. Patient-derived fibroblasts exhibit changes in nuclear envelope morphology and large nuclear-spanning channels containing trapped cytoplasmic organelles. Decreased and inefficient cellular motility is also observed"],"journal":["Nature communications"],"pagination":["605"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6363790"],"repository":["biostudies-literature"],"pubmed_title":["Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy."],"pmcid":["PMC6363790"],"pubmed_authors":["Spiegel R","Fichtman B","Chervinsky E","Shaag A","Zagairy F","Elpeleg O","Barsheshet Y","Ben Neriah Z","Assa M","Biran N","Harel A"],"additional_accession":[]},"is_claimable":false,"name":"Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.","description":"Nuclear envelopathies comprise a heterogeneous group of diseases caused by mutations in genes encoding nuclear envelope proteins. Mutations affecting lamina-associated polypeptide 1 (LAP1) result in two discrete phenotypes of muscular dystrophy and progressive dystonia with cerebellar atrophy. We report 7 patients presenting at birth with severe progressive neurological impairment, bilateral cataract, growth retardation and early lethality. All the patients are homozygous for a nonsense mutation in the TOR1AIP1 gene resulting in the loss of both protein isoforms LAP1B and LAP1C. Patient-derived fibroblasts exhibit changes in nuclear envelope morphology and large nuclear-spanning channels containing trapped cytoplasmic organelles. Decreased and inefficient cellular motility is also observed","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Feb","modification":"2026-04-13T17:21:42.54Z","creation":"2019-03-26T22:53:24Z"},"accession":"S-EPMC6363790","cross_references":{"pubmed":["30723199"],"doi":["10.1038/s41467-019-08493-7"]}}