Functional studies of new gla gene mutations leading to conformational fabry disease
C. Filoni,Anna Caciotti,Laura Carraresi,Catia Cavicchi,Rossella Parini,Daniela Antuzzi,Anna Zampetti,Sandro Feriozzi,P. Poisetti,Scott C. Garman,Renzo Guerrini,Enrico Zammarchi,M.A. Donati,Amelia Morrone +13 more
TLDR
The hypothesis that an active site-specific chemical chaperone, which could be administered orally, might be effective in treating GAL-A conformational defects is endorsed, paving the way for conformational FD.About:
This article is published in Biochimica et Biophysica Acta.The article was published on 2010-02-01 and is currently open access. It has received 51 citations till now. The article focuses on the topics: Mutant & Alpha-galactosidase.read more
Citations
More filters
Journal ArticleDOI
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
Dominique P. Germain,Derralynn Hughes,Kathleen Nicholls,Daniel G. Bichet,Roberto Giugliani,William R. Wilcox,Claudio Feliciani,Suma P. Shankar,Fatih Süheyl Ezgü,Hernan Amartino,Drago Bratkovic,Ulla Feldt-Rasmussen,Khan Nedd,Usama A Sharaf El Din,Charles Marques Lourenço,Maryam Banikazemi,Joel Charrow,Majed Dasouki,David N. Finegold,P Giraldo,Ozlem Goker-Alpan,Nicola Longo,C. Ronald Scott,Roser Torra,Ahmad Tuffaha,Ana Jovanovic,Stephen Waldek,Seymour Packman,Elizabeth Ludington,Christopher Viereck,John Kirk,Julie Yu,Elfrida R. Benjamin,Franklin K. Johnson,David J. Lockhart,Nina Skuban,Jeff Castelli,Jay A. Barth,Carrolee Barlow,Raphael Schiffmann,Raphael Schiffmann +40 more
TL;DR: Among all randomly assigned patients with Fabry's disease (with mutant α-galactosidase forms that were suitable or not suitable for migalastat therapy), the percentage of patients who had a response at 6 months did not differ significantly between the migAlastat group and the placebo group.
Journal ArticleDOI
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
Derralynn Hughes,Kathleen Nicholls,Suma P. Shankar,Gere Sunder-Plassmann,David M. Koeller,Khan Nedd,Gerard Vockley,Takashi Hamazaki,Robin H. Lachmann,Toya Ohashi,Iacopo Olivotto,Norio Sakai,Patrick Deegan,David Dimmock,François Eyskens,Dominique P. Germain,Ozlem Goker-Alpan,Eric Hachulla,Ana Jovanovic,Charles Marques Lourenço,Ichiei Narita,Mark Thomas,William R. Wilcox,Daniel G. Bichet,Raphael Schiffmann,Elizabeth Ludington,Christopher Viereck,John Kirk,Julie Yu,Franklin K. Johnson,Pol Boudes,Elfrida R. Benjamin,David J. Lockhart,Carrolee Barlow,Nina Skuban,Jeffrey P. Castelli,Jay A. Barth,Ulla Feldt-Rasmussen +37 more
TL;DR: Migalastat offers promise as a first-in-class oral monotherapy alternative treatment to intravenous ERT for patients with Fabry disease and amenable mutations.
Journal ArticleDOI
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Elfrida R. Benjamin,Maria Cecilia Della Valle,Xiaoyang Wu,Evan Katz,Farhana Pruthi,Sarah Bond,Benjamin Bronfin,Hadis Williams,Julie Yu,Daniel G. Bichet,Dominique P. Germain,Roberto Giugliani,Derralynn Hughes,Raphael Schiffmann,William R. Wilcox,Robert J. Desnick,John Kirk,Jay A. Barth,Carrolee Barlow,Kenneth J. Valenzano,Jeff Castelli,David J. Lockhart +21 more
TL;DR: The GLP HEK assay is a clinically validated method of identifying male and female Fabry patients for treatment with migalastat, a pharmacological chaperone that binds to specific mutant forms of α-galactosidase A to restore lysosomal activity.
Journal ArticleDOI
Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease
Jan Lukas,Anne-Katrin Giese,Arseni Markoff,Ulrike Grittner,Ed Kolodny,Hermann Mascher,Karl J. Lackner,Wolfgang Meyer,Phillip Wree,Viatcheslav Saviouk,Arndt Rolfs +10 more
TL;DR: In order to predict the metabolic consequence of a given mutation, in vitro enzyme activity with in vivo biomarker data is combined with the pharmacological chaperone 1-deoxygalactonojirimycin (DGJ) to provide information for the clinical relevance of PC therapy for a given mutant.
Journal ArticleDOI
Cerebrovascular Involvement in Fabry Disease Current Status of Knowledge
Edwin H. Kolodny,Andreas Fellgiebel,Max J. Hilz,Katherine B. Sims,Paul A. Caruso,Thanh G. Phan,Juan Politei,Renzo Manara,Alessandro P. Burlina +8 more
TL;DR: Fabry disease is inherited as an X-linked trait; many of the male patients develop a classic severe phenotype with early onset of symptoms, whereas heterozygous females exhibit phenotypes ranging from asymptomatic to major involvement of vital organs.
References
More filters
Book
The Metabolic and Molecular Bases of Inherited Disease
TL;DR: In this paper, the authors present a list of disorders of MITOCHONDRIAL FUNCTION, including the following: DISORDERS OF MIOCHONDRIC FERTILITY XIX, XVI, XIX.
Journal ArticleDOI
An atypical variant of Fabry's disease in men with left ventricular hypertrophy
Shoichiro Nakao,Toshihiro Takenaka,M Maeda,C Kodama,A Tanaka,M Tahara,A Yoshida,M Kuriyama,H Hayashibe,Hitoshi Sakuraba +9 more
TL;DR: Seven unrelated patients with atypical variants of hemizygous Fabry's disease were found among 230 men with left ventricular hypertrophy, and Fabry’s disease should be considered as a cause of unexplainedleft ventricularhypertrophy.
Journal ArticleDOI
Quality control in the endoplasmic reticulum protein factory.
Roberto Sitia,Ineke Braakman +1 more
TL;DR: The endoplasmic reticulum (ER) is a factory where secretory proteins are manufactured, and where stringent quality-control systems ensure that only correctly folded proteins are sent to their final destinations.
Journal ArticleDOI
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
Shoichiro Nakao,Chihaya Kodama,Chihaya Kodama,Toshihiro Takenaka,Toshihiro Takenaka,Akihiro Tanaka,Akihiro Tanaka,Yuichiro Yasumoto,Yuichiro Yasumoto,Aichi Yoshida,Aichi Yoshida,Tamotsu Kanzaki,Tamotsu Kanzaki,Annette L.D. Enriquez,Annette L.D. Enriquez,Christine M. Eng,Christine M. Eng,Hiromitsu Tanaka,Hiromitsu Tanaka,Chuwa Tei,Chuwa Tei,Robert J. Desnick,Robert J. Desnick +22 more
TL;DR: The clinical spectrum of Fabry disease includes a "renal variant" phenotype in patients without classic symptoms who develop ESRD, and affected males undergoing hemodialysis or renal transplantation can be readily diagnosed by plasma alpha-Gal A assays.
Journal ArticleDOI
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
TL;DR: The structure of human alpha-GAL brings Fabry disease into the realm of molecular diseases, where insights into the structural basis of the disease phenotypes might help guide the clinical treatment of patients.