Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease

(2020) Susanne Seemann et al.   BIOCHEMICAL JOURNAL

Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease

(2020) Jan Lukas et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Migalastat: A Review in Fabry Disease

(2019) Emma H. McCafferty et al.   DRUGS

UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease

(2018) Hila Braunstein et al.   BLOOD CELLS MOLECULES AND DISEASES

Fabry Disease: prevalence of affected males and heterozygotes with pathogenicGLAmutations identified by screening renal, cardiac and stroke clinics, 1995–2017

(2018) Dana Doheny et al.   JOURNAL OF MEDICAL GENETICS

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

(2017) Raphael Schiffmann et al.   KIDNEY INTERNATIONAL

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease

(2017) Antonino Tuttolomondo et al.   Oncotarget

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

(2016) Elfrida R. Benjamin et al.   GENETICS IN MEDICINE

The contribution of mutantGBAto the development of Parkinson disease inDrosophila

(2016) Gali Maor et al.   HUMAN MOLECULAR GENETICS

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

(2015) Jan Lukas et al.   HUMAN MUTATION

Enzyme Enhancers for the Treatment of Fabry and Pompe Disease

(2015) Jan Lukas et al.   MOLECULAR THERAPY

The therapeutic potential of chemical chaperones in protein folding diseases

(2014) Leonardo Cortez et al.   Prion

Unfolded protein response in Gaucher disease: from human to Drosophila

(2013) Gali Maor et al.   Orphanet Journal of Rare Diseases

Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb3) in Fabry Transgenic Mice and in the Plasma of Fabry Patients

(2013) Brandy Young-Gqamana et al.   PLoS One

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease

(2013) Jan Lukas et al.   PLoS Genetics

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

(2012) Inna Bendikov-Bar et al.   BLOOD CELLS MOLECULES AND DISEASES

The impact of the unfolded protein response on human disease

(2012) Shiyu Wang et al.   JOURNAL OF CELL BIOLOGY

A pharmacogenetic approach to identify mutant forms of α-galactosidase a that respond to a pharmacological chaperone for Fabry disease

(2011) Xiaoyang Wu et al.   HUMAN MUTATION

Higher apoptotic state in Fabry disease peripheral blood mononuclear cells.

(2011) Pablo N. De Francesco et al.   MOLECULAR GENETICS AND METABOLISM

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

(2011) Giuseppina Andreotti et al.   Orphanet Journal of Rare Diseases

The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation

(2011) P. Walter et al.   SCIENCE

Protein Folding and Quality Control in the ER

(2011) K. Araki et al.   Cold Spring Harbor Perspectives in Biology

Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant

(2010) Inna Bendikov-Bar et al.   BLOOD CELLS MOLECULES AND DISEASES

Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature

(2010) Olivier Lidove et al.   GENETICS IN MEDICINE

Fabry disease

(2010) Dominique P Germain   Orphanet Journal of Rare Diseases

Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

(2009) Gustavo H. B. Maegawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines

(2009) E. R. Benjamin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease

(2009) Richie Khanna et al.   MOLECULAR THERAPY

Methods for quantifying simple gravity sensing in Drosophila melanogaster

(2009) Hidehiko K Inagaki et al.   Nature Protocols

Eight different types of dopaminergic neurons innervate the Drosophila mushroom body neuropil: anatomical and physiological heterogeneity

(2009) Zhengmei Mao   Frontiers in Neural Circuits

Rescue of mutant α-galactosidase A in the endoplasmic reticulum by 1-deoxygalactonojirimycin leads to trafficking to lysosomes

(2008) Ryoji Hamanaka et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

(2008) J. M. Aerts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

(2007) William R. Wilcox et al.   MOLECULAR GENETICS AND METABOLISM