Publications by authors named "Stella Mitrani-Rosenbaum"

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Human primary skeletal muscle cells express glutamate receptor GluR3, are activated by glutamate, and are affected by autoimmune GluR3B antibodies of epilepsy patients.
Mia Levite, Nili Ilouz, Avi Harazi, Hadassa Goldberg-Stern, Eithan Galun, Stella Mitrani-Rosenbaum

Front Physiol· December 2025

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Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment.
Avi Harazi, Lena Yakovlev, Nili Ilouz, Philipp Selke, Rudiger Horstkorte, Stella Mitrani-Rosenbaum

J Neuromuscul Dis· September 2024

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GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?
Stella Mitrani-Rosenbaum, Ruben Attali, Zohar Argov

Neuromuscul Disord· October 2023

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Generation and characterization of a novel Knockout Model in Zebrafish.
Hagay Livne, Tom Avital, Shmuel Ruppo, Avi Harazi, Stella Mitrani-Rosenbaum

Front Cell Dev Biol· October 2022

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and genome editing to explore GNE functions.
Nili Ilouz, Avi Harazi, Miriam Guttman, Alon Daya, Shmuel Ruppo, Stella Mitrani-Rosenbaum

Front Genome Ed· September 2022

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The Obesogenic and Glycemic Effect of Bariatric Surgery in a Family with a Melanocortin 4 Receptor Loss-of-Function Mutation.
Ronit Grinbaum, Nahum Beglaibter, Stella Mitrani-Rosenbaum, Lee M Kaplan, Danny Ben-Zvi

Metabolites· May 2022

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Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy.
Stella Mitrani-Rosenbaum, Lena Yakovlev, Michal Becker Cohen, Zohar Argov, Yakov Fellig

J Neuromuscul Dis· February 2022

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Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype.
Hadar Benyamini, Yehuda Kling, Lena Yakovlev, Michal Becker Cohen, Yuval Nevo, Stella Mitrani-Rosenbaum

J Neuromuscul Dis· November 2020

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The glycomic sialylation profile of GNE Myopathy muscle cells does not point to consistent hyposialylation of individual glycoconjugates.
Ilan Sela, Victoria Goss, Michal Becker-Cohen, Anne Dell, Stuart M Haslam, Stella Mitrani-Rosenbaum

Neuromuscul Disord· August 2020

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Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD.
Nurit Yanay, Moran Elbaz, Jenya Konikov-Rozenman, Sharona Elgavish, Yuval Nevo, Stella Mitrani-Rosenbaum

Hum Mol Genet· October 2019

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The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant.
Avi Harazi, Michal Becker-Cohen, Hagit Zer, Ofra Moshel, Stephan Hinderlich, Stella Mitrani-Rosenbaum

Mol Neurobiol· May 2017

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Survival-apoptosis associated signaling in GNE myopathy-cultured myoblasts.
Avi Harazi, Malka Chaouat, Zippora Shlomai, Robina Levitzki, Michal Becker-Cohen, Stella Mitrani-Rosenbaum

J Recept Signal Transduct Res· August 2016

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Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.
Ori Rokach, Marijana Sekulic-Jablanovic, Nicol Voermans, Jo Wilmshurst, Komala Pillay, Stella Mitrani-Rosenbaum

Hum Mol Genet· August 2015

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Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells.
Shira Yanovsky-Dagan, Michal Avitzour, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Stella Mitrani-Rosenbaum

Stem Cell Reports· August 2015

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GNE Myopathy: Two Clusters with History and Several Founder Mutations.
Zohar Argov, Stella Mitrani Rosenbaum

J Neuromuscul Dis· July 2015

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Gne depletion during zebrafish development impairs skeletal muscle structure and function.
Alon Daya, Gad David Vatine, Michal Becker-Cohen, Tzukit Tal-Goldberg, Adam Friedmann, Stella Mitrani-Rosenbaum

Hum Mol Genet· July 2014

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Correction of the Middle Eastern M712T mutation causing GNE myopathy by trans-splicing.
Tzukit Tal-Goldberg, Stéphanie Lorain, Stella Mitrani-Rosenbaum

Neuromolecular Med· June 2014

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GNE myopathy: new name and new mutation nomenclature.
Marjan Huizing, Nuria Carrillo-Carrasco, May Christine V Malicdan, Satoru Noguchi, William A Gahl, Stella Mitrani-Rosenbaum

Neuromuscul Disord· May 2014

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Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.
Ruben Attali, Sharon Aharoni, Susan Treves, Ori Rokach, Michal Becker Cohen, Stella Mitrani-Rosenbaum

PLoS One· February 2014

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Variable phenotypes of knockin mice carrying the M712T Gne mutation.
Ilan Sela, Lena Yakovlev, Michal Becker Cohen, Moran Elbaz, Nurit Yanay, Stella Mitrani-Rosenbaum

Neuromolecular Med· March 2013

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Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery.
Stella Mitrani-Rosenbaum, Lena Yakovlev, Michal Becker Cohen, Michal Telem, Moran Elbaz

Neuromuscul Disord· November 2012

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Colon cancer associated transcript-1: a novel RNA expressed in malignant and pre-malignant human tissues.
Aviram Nissan, Alexander Stojadinovic, Stella Mitrani-Rosenbaum, David Halle, Ronit Grinbaum

Int J Cancer· April 2012

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Detection of N-glycans on small amounts of glycoproteins in tissue samples and sodium dodecyl sulfate-polyacrylamide gels.
Takeshi Yoshimura, Gen Yamada, Mai Narumi, Takako Koike, Akihiro Ishii, Stella Mitrani-Rosenbaum

Anal Biochem· April 2012

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GNE is involved in the early development of skeletal and cardiac muscle.
Irit Milman Krentsis, Ilan Sela, Rachel Eiges, Véronique Blanchard, Markus Berger, Stella Mitrani-Rosenbaum

PLoS One· November 2011

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The proteomic profile of hereditary inclusion body myopathy.
Ilan Sela, Irit Milman Krentsis, Zipora Shlomai, Menachem Sadeh, Ron Dabby, Stella Mitrani-Rosenbaum

PLoS One· January 2011

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