Disruption of the Sjögren-Larsson Syndrome Gene Aldh3a2 in Mice Increases Keratinocyte Growth and Retards Skin Barrier Recovery
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چکیده
منابع مشابه
Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome
Sjögren-Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome. Here, we report an Iranian family with congenital SLS bearing a novel two-base-pair deletion within ALDH3A2 genomic sequence. Our finding expands the mutation spectrum of ALDH3A2 that is...
متن کاملIdentification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome
Je Yeon Kim, M.D., Shin-Hye Kim, M.D., Mi-Jung Park, M.D., Soung Hee Kim, M.D., Woo Ho Cho, M.D., Jin Choi, M.D., Chang-Seok Ki, M.D., and Su Jeong You, M.D. Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul; Department of Radiology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul; Department of Ophthalm...
متن کاملDisruption of Aldh3a2 gene
The fatty aldehyde dehydrogenase (FALDH) ALDH3A2 is the causative gene of Sjögren-Larrson syndrome (SLS). To date, the molecular mechanism underlying the symptoms characterizing SLS has been poorly understood. Using Aldh3a2 mice, we here found that Aldh3a2 was the major FALDH active in undifferentiated keratinocytes. Long-chain base metabolism was greatly impaired in Aldh3a2 keratinocytes. Phen...
متن کاملKarl Gustaf Torsten Sjögren and Sjögren-Larsson syndrome
Karl Gustaf Torsten Sjögren (1896-1974), (Figure 1), a Swedish psychiatrist and geneticist, was a pioneer of modern Swedish psychiatry.1-4 Sjögren studied medicine at the University of Uppsala.1 From 1932 to 1935, he was Head Physician and Director of Lillehagen Hospital in Gothenburg, and between 19351945, he was physician-in-chief at the psychiatric department of Sahlgrenska Hospital in Gothe...
متن کاملLarge contiguous gene deletions in Sjögren-Larsson syndrome.
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. More than 70 mutations have been identified in SLS patients, including small deletions or insertions, missense mutations, splicing ...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2016
ISSN: 0021-9258
DOI: 10.1074/jbc.m116.714030