Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Stella Mitrani Rosenbaum"'
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
GNE Myopathy is a rare, recessively inherited neuromuscular worldwide disorder, caused by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional enzyme responsible for the rate-limiting step of sialic acid biosynthesis
Externí odkaz:
https://doaj.org/article/73a3cdaec61e4bfa8d1cb55a92fa614d
Autor:
Nili Ilouz, Avi Harazi, Miriam Guttman, Alon Daya, Shmuel Ruppo, Lena Yakovlev, Stella Mitrani-Rosenbaum
Publikováno v:
Frontiers in Genome Editing, Vol 4 (2022)
GNE myopathy is an adult onset neuromuscular disorder characterized by slowly progressive distal and proximal muscle weakness, caused by missense recessive mutations in the GNE gene. Although the encoded bifunctional enzyme is well known as the limit
Externí odkaz:
https://doaj.org/article/d01d9991c3af4e9fb487a592ffdc49a9
Publikováno v:
Metabolites, Vol 12, Iss 5, p 430 (2022)
We report the long-term response to bariatric surgery in a singular family of four adolescents with severe obesity (41–82 kg/m2), homozygous for the C271R loss-of-function mutation in the melanocortin 4 receptor (MC4R), and three adults heterozygou
Externí odkaz:
https://doaj.org/article/fde35e1cca4b4244a8bf5b3a185f58f4
Autor:
Shira Yanovsky-Dagan, Michal Avitzour, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Oshrat Schonberger, Stella Mitrani-Rosenbaum, Ephrat Levy-Lahad, Ramon Y. Birnbaum, Lior Gepstein, Silvina Epsztejn-Litman, Rachel Eiges
Publikováno v:
Stem Cell Reports, Vol 5, Iss 2, Pp 221-231 (2015)
CTG repeat expansion in DMPK, the cause of myotonic dystrophy type 1 (DM1), frequently results in hypermethylation and reduced SIX5 expression. The contribution of hypermethylation to disease pathogenesis and the precise mechanism by which SIX5 expre
Externí odkaz:
https://doaj.org/article/cd5a02d6a12048d9aca4c072ca981984
Autor:
Victoria Goss, Ilan Sela, Michal Becker-Cohen, Stella Mitrani-Rosenbaum, Anne Dell, Stuart M. Haslam
Publikováno v:
Neuromuscular Disorders. 30:621-630
GNE Myopathy is a recessive neuromuscular disorder characterized by adult-onset, slowly progressive distal and proximal muscle weakness, and a typical muscle pathology. Although GNE, which is the mutated gene in the disease, is well known as the key
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c28392c4fe0c5d162ee61b86acf15b7
https://doi.org/10.1016/j.nmd.2020.05.008
https://doi.org/10.1016/j.nmd.2020.05.008
Autor:
Michal Becker Cohen, Yakov Fellig, L. Yakovlev, Stella Mitrani-Rosenbaum, Zohar Argov, A. Harazi
Publikováno v:
Journal of neuromuscular diseases. 9(1)
Background: GNE myopathy is a unique adult onset rare neuromuscular disease caused by recessive mutations in the GNE gene. The pathophysiological mechanism of this disorder is not well understood and to date, there is no available therapy for this de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd61716f42305564a33d156fba6b27d5
https://pubmed.ncbi.nlm.nih.gov/34806613
https://pubmed.ncbi.nlm.nih.gov/34806613
Publikováno v:
SSRN Electronic Journal.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da45dff50479c64025b691d78acf79ae
https://doi.org/10.2139/ssrn.3821954
https://doi.org/10.2139/ssrn.3821954
Autor:
Ruben Attali, Sharon Aharoni, Susan Treves, Ori Rokach, Michal Becker Cohen, Yakov Fellig, Rachel Straussberg, Talya Dor, Muhannad Daana, Stella Mitrani-Rosenbaum, Yoram Nevo
Publikováno v:
PLoS ONE, Vol 8, Iss 7, p e69296 (2013)
We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscl
Externí odkaz:
https://doaj.org/article/02dcdff8a06848c0afb90b230e57ca0a
Autor:
Zohar Argov, Yehuda Kling, Sharona Elgavish, Ilan Sela, L. Yakovlev, Stella Mitrani-Rosenbaum, A. Harazi, Yuval Nevo, Michal Becker Cohen, Hadar Benyamini
Publikováno v:
Journal of Neuromuscular Diseases
Background Mutations in GNE cause a recessive, adult onset myopathy characterized by slowly progressive distal and proximal muscle weakness. Knock-in mice carrying the most frequent mutation in GNE myopathy patients, GneM743T/M743T, usually die few d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5c95b7769786f87e6f93825eb89211c
https://pubmed.ncbi.nlm.nih.gov/31985472
https://pubmed.ncbi.nlm.nih.gov/31985472
Autor:
Ilan Sela, Irit Milman Krentsis, Zipora Shlomai, Menachem Sadeh, Ron Dabby, Zohar Argov, Hannah Ben-Bassat, Stella Mitrani-Rosenbaum
Publikováno v:
PLoS ONE, Vol 6, Iss 1, p e16334 (2011)
Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy. Although the causing gene, GNE, encodes for a key enzyme in the biosynthesis of sialic acid, its primary function in HIBM remains unknown. T
Externí odkaz:
https://doaj.org/article/3f287dd88c194ad181341004cd2f111f