A
Avraham Shaag
Researcher at Hebrew University of Jerusalem
Publications - 82
Citations - 4687
Avraham Shaag is an academic researcher from Hebrew University of Jerusalem. The author has contributed to research in topics: Exome sequencing & Missense mutation. The author has an hindex of 36, co-authored 82 publications receiving 4020 citations.
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Journal ArticleDOI
Deleterious Mutation in the Mitochondrial Arginyl-Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia
Simon Edvardson,Avraham Shaag,Olga Kolesnikova,John M. Gomori,Ivan Tarassov,Tom Einbinder,Ann Saada,Orly Elpeleg +7 more
TL;DR: It is speculated that missplicing mutations in mitochondrial aminoacyl-tRNA synthethase genes preferentially affect the brain because of a tissue-specific vulnerability of the splicing machinery.
Journal ArticleDOI
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.
Simon Edvardson,Yuval Cinnamon,Asaf Ta-Shma,Avraham Shaag,Yang-In Yim,Shamir Zenvirt,Chaim Jalas,Suzanne Lesage,Alexis Brice,Albert Taraboulos,Klaus H. Kaestner,Lois E. Greene,Orly Elpeleg +12 more
TL;DR: The importance of the endocytic/lysosomal pathway in the pathogenesis of Parkinson disease and other forms of Parkinsonism is underscored, with a deleterious mutation in DNAJC6 identified in two patients with juvenile Parkinsonism.
Journal ArticleDOI
Acute Infantile Liver Failure Due to Mutations in the TRMU Gene
Avraham Zeharia,Avraham Shaag,Orit Pappo,Anne-Marie Mager-Heckel,Ann Saada,Marine Beinat,Olga Karicheva,Hanna Mandel,Noa Ofek,Reeval Segel,Daphna Marom,Agnès Rötig,Ivan Tarassov,Orly Elpeleg +13 more
TL;DR: There is a window of time whereby patients with TRMU mutations are at increased risk of developing liver failure, and it is proposed that sulfur is a TRMU substrate and its availability is limited during the neonatal period.
Journal ArticleDOI
Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood
Avraham Zeharia,Avraham Zeharia,Avraham Shaag,Riekelt H. Houtkooper,Tareq Hindi,Pascale de Lonlay,Gilli Erez,Laurence Hubert,Ann Saada,Yves de Keyzer,Gideon Eshel,Frédéric M. Vaz,Ophry Pines,Orly Elpeleg +13 more
TL;DR: Using homozygosity mapping, six deleterious mutations in the LPIN1 gene are identified in patients who presented at 2-7 years of age with recurrent, massive rhabdomyolysis and a carrier state may predispose for statin-induced myopathy.
Journal ArticleDOI
Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia
Simon Edvardson,Hiroko Hama,Avraham Shaag,John M. Gomori,Itai Berger,Dov Soffer,Stanley H. Korman,Ilana Taustein,Ann Saada,Orly Elpeleg +9 more
TL;DR: To the knowledge, this is the first identified deficiency of a lipid component of myelin and the clinical phenotype underscores the importance of the 2-hydroxylation of galactolipids for myelin maturation.