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Page 1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA. Megarbane A, et al. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.
In this cohort, 81.4% of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost half of these described with spinal muscular atrophy (SMA) (40.3% of patients). We estimate a high SMA incidence of 1 in 7,500 births in Lebanon. …
In this cohort, 81.4% of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost half of thes …
Chanarin-Dorfman syndrome.
Kalyon S, Gökden Y, Demirel N, Erden B, Türkyılmaz A. Kalyon S, et al. Turk J Gastroenterol. 2019 Jan;30(1):105-108. doi: 10.5152/tjg.2018.18014. Turk J Gastroenterol. 2019. PMID: 30457558 Free PMC article.
Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumulation of lipid vacuoles in neutrophils, and was first described by Dorfman in 1974. Due to a mutation in the ABHD5 gene of the short arm of chromo …
Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumulation of lipi …
Critical roles for alpha/beta hydrolase domain 5 (ABHD5)/comparative gene identification-58 (CGI-58) at the lipid droplet interface and beyond.
Brown AL, Mark Brown J. Brown AL, et al. Biochim Biophys Acta Mol Cell Biol Lipids. 2017 Oct;1862(10 Pt B):1233-1241. doi: 10.1016/j.bbalip.2017.07.016. Epub 2017 Aug 4. Biochim Biophys Acta Mol Cell Biol Lipids. 2017. PMID: 28827091 Free PMC article. Review.
Mutations in the gene encoding comparative gene identification 58 (CGI-58), also known as alpha beta hydrolase domain-containing 5 (ABHD5), cause neutral lipid storage disorder with ichthyosis (NLSDI). ...
Mutations in the gene encoding comparative gene identification 58 (CGI-58), also known as alpha beta hydrolase domain-containing 5 (ABHD5 …
Chanarin-Dorfman Syndrome: A comprehensive review.
Cakmak E, Bagci G. Cakmak E, et al. Liver Int. 2021 May;41(5):905-914. doi: 10.1111/liv.14794. Epub 2021 Mar 18. Liver Int. 2021. PMID: 33455044 Review.
This syndrome is associated with a decrease in the lipolysis activity in multiple tissue cells because of recessive mutations in the abhydrolase domain containing 5 (ABHD5) gene, which leads to the accumulation of lipid droplets in multiple types of cells. ...
This syndrome is associated with a decrease in the lipolysis activity in multiple tissue cells because of recessive mutations in the abhydro …
Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed omega-O-acylceramide production by ABHD5.
Ohno Y, Nara A, Nakamichi S, Kihara A. Ohno Y, et al. J Dermatol Sci. 2018 Dec;92(3):245-253. doi: 10.1016/j.jdermsci.2018.11.005. Epub 2018 Nov 20. J Dermatol Sci. 2018. PMID: 30527376
This staining pattern was observed in cells where PNPLA1 and ABHD5 were expressed at low levels. In contrast, lipid droplets disappeared in cells where PNPLA1 and ABHD5 were highly expressed. ...CONCLUSION: ABHD5 enhances PNPLA1-catalyzed acylceramide product …
This staining pattern was observed in cells where PNPLA1 and ABHD5 were expressed at low levels. In contrast, lipid droplets disappea …
ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production.
Vieyres G, Welsch K, Gerold G, Gentzsch J, Kahl S, Vondran FW, Kaderali L, Pietschmann T. Vieyres G, et al. PLoS Pathog. 2016 Apr 28;12(4):e1005568. doi: 10.1371/journal.ppat.1005568. eCollection 2016 Apr. PLoS Pathog. 2016. PMID: 27124600 Free PMC article.
ABHD5 associated with lipid droplets and triggered their hydrolysis. ...Additional ABHD5 mutagenesis revealed a novel tribasic motif that does not influence subcellular localization but determines both ABHD5 lipolytic and proviral properties. ...
ABHD5 associated with lipid droplets and triggered their hydrolysis. ...Additional ABHD5 mutagenesis revealed a novel tribasic …
Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.
Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D. Redaelli C, et al. Orphanet J Rare Dis. 2010 Dec 1;5:33. doi: 10.1186/1750-1172-5-33. Orphanet J Rare Dis. 2010. PMID: 21122093 Free PMC article.
The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central nervous system (CNS). Mutations in ABHD5/CGI58 gene are associated with CDS. METHODS: Eight CDS patients belonging to six different families from Mediterra …
The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central nervous system (CNS). …
Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation.
Nur BG, Gencpinar P, Yuzbasıoglu A, Emre SD, Mihci E. Nur BG, et al. Eur J Med Genet. 2015 Apr;58(4):238-42. doi: 10.1016/j.ejmg.2015.01.011. Epub 2015 Feb 14. Eur J Med Genet. 2015. PMID: 25682902
We present clinical and molecular data of four affected relatives with Chanarin-Dorfman syndrome homozygous for a N209X mutation in ABHD5, and provide a short review by comparing patients with N209X homozygous mutations to patients with other ABHD5 mutations. ...
We present clinical and molecular data of four affected relatives with Chanarin-Dorfman syndrome homozygous for a N209X mutation in ABHD5 …
Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene.
Tamhankar PM, Iyer S, Sanghavi S, Khopkar U. Tamhankar PM, et al. J Postgrad Med. 2014 Jul-Sep;60(3):332-4. doi: 10.4103/0022-3859.138826. J Postgrad Med. 2014. PMID: 25121381
Liver biopsy showed micronodular cirrhosis along with macrovesicular hepatic steatosis. Sequencing of all exons and exon-intron boundaries of the ABHD5 gene showed that the patient was homozygous for a novel mutation g.24947delG (c.773 + 1delG) in intron 5. ...
Liver biopsy showed micronodular cirrhosis along with macrovesicular hepatic steatosis. Sequencing of all exons and exon-intron boundaries o …
43 results