Publications by authors named "Mia Horowitz"

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The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease.
Vera Serebryany-Piavsky, Lian Egulsky, Julia Elia Manoim-Wolkovitz, Saar Anis, Sharon Hassin-Baer, Mia Horowitz

Hum Mol Genet· July 2025

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Functional Analysis of Human Missense Mutations in : Insights into Gaucher Disease Pathogenesis and Phenotypic Consequences.
Aparna Kuppuramalingam, Or Cabasso, Mia Horowitz

Cells· September 2024

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-Associated Parkinson's Disease Is a Distinct Entity.
Aliaksandr Skrahin, Mia Horowitz, Majdolen Istaiti, Volha Skrahina, Jan Lukas

Int J Mol Sci· June 2024

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Animal Models for the Study of Gaucher Disease.
Or Cabasso, Aparna Kuppuramalingam, Lindsey Lelieveld, Martijn Van der Lienden, Rolf Boot, Mia Horowitz

Int J Mol Sci· November 2023

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Lysosomal functions and dysfunctions: Molecular and cellular mechanisms underlying Gaucher disease and its association with Parkinson disease.
Mia Horowitz, Hila Braunstein, Ari Zimran, Shoshana Revel-Vilk, Ozlem Goker-Alpan

Adv Drug Deliv Rev· August 2022

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The Uncovered Function of the -Encoded Protein.
Or Cabasso, Sumit Paul, Gali Maor, Metsada Pasmanik-Chor, Wouter Kallemeijn, Mia Horowitz

Cells· March 2021

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Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat.
Hila Braunstein, Maria Papazian, Gali Maor, Jan Lukas, Arndt Rolfs, Mia Horowitz

Int J Mol Sci· October 2020

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Mutated in its Ortholog Recapitulates Neuronopathic Gaucher Disease.
Or Cabasso, Sumit Paul, Orly Dorot, Gali Maor, Olga Krivoruk, Mia Horowitz

J Clin Med· September 2019

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The effect of mutant GBA1 on accumulation and aggregation of α-synuclein.
Gali Maor, Debora Rapaport, Mia Horowitz

Hum Mol Genet· June 2019

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NEK3-mediated SNAP29 phosphorylation modulates its membrane association and SNARE fusion dependent processes.
Debora Rapaport, Boris Fichtman, Hilla Weidberg, Eli Sprecher, Mia Horowitz

Biochem Biophys Res Commun· March 2018

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UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease.
Hila Braunstein, Gali Maor, Gaya Chicco, Mirella Filocamo, Ari Zimran, Mia Horowitz

Blood Cells Mol Dis· February 2018

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Past1 Modulates Drosophila Eye Development.
Orly Dorot, Hermann Steller, Daniel Segal, Mia Horowitz

PLoS One· August 2017

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Correction: Past1 Modulates Drosophila Eye Development.
Orly Dorot, Hermann Steller, Daniel Segal, Mia Horowitz

PLoS One· March 2017

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New Directions in Gaucher Disease.
Mia Horowitz, Deborah Elstein, Ari Zimran, Ozlem Goker-Alpan

Hum Mutat· November 2016

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Non-keratinocyte SNAP29 influences epidermal differentiation and hair follicle formation in mice.
Stina A Schiller, Christina Seebode, Georg L Wieser, Sandra Goebbels, Torben Ruhwedel, Mia Horowitz

Exp Dermatol· August 2016

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The contribution of mutant GBA to the development of Parkinson disease in Drosophila.
Gali Maor, Or Cabasso, Olga Krivoruk, Joe Rodriguez, Hermann Steller, Mia Horowitz

Hum Mol Genet· July 2016

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SUMOylation of EHD3 Modulates Tubulation of the Endocytic Recycling Compartment.
Or Cabasso, Olga Pekar, Mia Horowitz

PLoS One· May 2016

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Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation.
Stina A Schiller, Christina Seebode, Georg L Wieser, Sandra Goebbels, Wiebke Möbius, Mia Horowitz

J Invest Dermatol· March 2016

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Parkin-mediated ubiquitination of mutant glucocerebrosidase leads to competition with its substrates PARIS and ARTS.
Inna Bendikov-Bar, Debora Rapaport, Sarit Larisch, Mia Horowitz

Orphanet J Rare Dis· June 2014

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Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
Liat Samuelov, Ofer Sarig, Robert M Harmon, Debora Rapaport, Akemi Ishida-Yamamoto, Mia Horowitz

Nat Genet· October 2013

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Unfolded protein response in Gaucher disease: from human to Drosophila.
Gali Maor, Sigal Rencus-Lazar, Mirella Filocamo, Hermann Steller, Daniel Segal, Mia Horowitz

Orphanet J Rare Dis· September 2013

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ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease.
Gali Maor, Mirella Filocamo, Mia Horowitz

Hum Mol Genet· April 2013

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Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase.
Inna Bendikov-Bar, Gali Maor, Mirella Filocamo, Mia Horowitz

Blood Cells Mol Dis· February 2013

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Gaucher disease paradigm: from ERAD to comorbidity.
Inna Bendikov-Bar, Mia Horowitz

Hum Mutat· October 2012

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Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
Ofer Sarig, Sagi Nahum, Debora Rapaport, Akemi Ishida-Yamamoto, Dana Fuchs-Telem, Mia Horowitz

Am J Hum Genet· August 2012

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