Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Uri Sprecher"'
Publikováno v:
Neurobiology of Disease, Vol 201, Iss , Pp 106667- (2024)
Huntington's Disease (HD) is an inheritable neurodegenerative condition caused by an expanded CAG trinucleotide repeat in the HTT gene with a direct correlation between CAG repeats expansion and disease severity with earlier onset-of- disease. Previo
Externí odkaz:
https://doaj.org/article/dfb094b42c054460a5dfa8c2dd253ef3
Autor:
Kumudesh Mishra, Sahar Sweetat, Saja Baraghithy, Uri Sprecher, Monzer Marisat, Sultan Bastu, Hava Glickstein, Joseph Tam, Hanna Rosenmann, Miguel Weil, Edoardo Malfatti, Or Kakhlon
Publikováno v:
Biomolecules, Vol 14, Iss 8, p 893 (2024)
Glycogen storage disease type III (GSDIII) is a hereditary glycogenosis caused by deficiency of the glycogen debranching enzyme (GDE), an enzyme, encoded by Agl, enabling glycogen degradation by catalyzing alpha-1,4-oligosaccharide side chain transfe
Externí odkaz:
https://doaj.org/article/73e5be5b00194bf9b242473aca67c83c
Autor:
Saja Gharaba, Omri Paz, Lea Feld, Anastasia Abashidze, Maydan Weinrab, Noam Muchtar, Adam Baransi, Aviv Shalem, Uri Sprecher, Lior Wolf, Haguy Wolfenson, Miguel Weil
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Primary fibroblasts from patient’s skin biopsies are directly isolated without any alteration in the genome, retaining in culture conditions their endogenous cellular characteristics and biochemical properties. The aim of this study was to identify
Externí odkaz:
https://doaj.org/article/1b3d070e04c445f2bd658d685c0fa744
Autor:
Or Kakhlon, Hilla Vaknin, Kumudesh Mishra, Jeevitha D’Souza, Monzer Marisat, Uri Sprecher, Shane Wald‐Altman, Anna Dukhovny, Yuval Raviv, Benny Da’adoosh, Hamutal Engel, Sandrine Benhamron, Keren Nitzan, Sahar Sweetat, Anna Permyakova, Anat Mordechai, Hasan Orhan Akman, Hanna Rosenmann, Alexander Lossos, Joseph Tam, Berge A. Minassian, Miguel Weil
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 10, Pp 1-26 (2021)
Abstract This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan‐reducing compound 144DG11. APBD is a glycogen storage disorder (GSD) caused by glycogen branching enzyme (G
Externí odkaz:
https://doaj.org/article/1a148de87c5d456f843b17754edc0627
Autor:
Mishra, Kumudesh1 (AUTHOR) kumudeshmishra@gmail.com, Sweetat, Sahar1 (AUTHOR) sahar.sweetat@mail.huji.ac.il, Baraghithy, Saja2 (AUTHOR) saja.baraghithy@mail.huji.ac.il, Sprecher, Uri3 (AUTHOR) uri8sp@gmail.com, Marisat, Monzer3 (AUTHOR) monzermar@gmail.com, Bastu, Sultan4 (AUTHOR) sultan.bastu@inserm.fr, Glickstein, Hava5 (AUTHOR) hava.glickstein@mail.huji.ac.il, Tam, Joseph2 (AUTHOR) yossi.tam@mail.huji.ac.il, Rosenmann, Hanna1 (AUTHOR) rosenman@hadassah.org.il, Weil, Miguel3 (AUTHOR) miguelw@tauex.tau.ac.il, Malfatti, Edoardo4 (AUTHOR) edoardo.malfatti@aphp.fr, Kakhlon, Or1,6 (AUTHOR) ork@hadassah.org.il
Publikováno v:
Biomolecules (2218-273X). Aug2024, Vol. 14 Issue 8, p893. 16p.
Publikováno v:
Health & Medicine Week; 9/13/2024, p4512-4512, 1p