Results 1 to 10 of about 47,609 (112)

Pharmacological Chaperone Therapy for Pompe Disease [PDF]

Molecules, 2021
Pompe disease (PD), a lysosomal storage disease, is caused by mutations of the GAA gene, inducing deficiency in the acid alpha-glucosidase (GAA). This enzymatic impairment causes glycogen burden in lysosomes and triggers cell malfunctions, especially in ...
Marc Borie-Guichot, My Lan Tran, Yves Génisson, Stéphanie Ballereau, Cécile Dehoux   +4 more
doaj   +4 more sources

Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy [PDF]

Case Reports in Nephrology and Dialysis, 2021
Fabry disease (FD) is an X-linked disorder of the sphingolipid metabolism, caused by deficiency or decreased activity of α-galactosidase A. We report a rare case of Fabry nephropathy (FN) in a 21-year-old Japanese female patient presenting with only ...
Tsugumi Fukunaga, Shingo Nakayama, Takuo Hirose, Kishin Muramatsu, Akari Endo, Yuka Miyake, Go Anan, Ikuko Oba-Yabana, Atsuhiro Kanno, Hannah Nakamura, Junichi Tani, Kimitoshi Nakamura, Kazuhiro Sumitomo, Wako Yumura, Katsutoshi Furukawa, Takefumi Mori   +15 more
doaj   +2 more sources

In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy [PDF]

Molecular Genetics and Metabolism Reports, 2020
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the acid β-glucosidase encoding gene (GBA1), resulting in the deficient activity of acid β-glucosidase (GCase).
Giovanni Ciana, Andrea Dardis, Eleonora Pavan, Rosalia Maria Da Riol, Jessica Biasizzo, Dania Ferino, Manuela Zanatta, Antonella Boni, Luisa Antonini, Giovanni Crichiutti, Bruno Bembi   +10 more
doaj   +2 more sources

Heat Shock Proteins in Cancer: Mechanisms and Therapeutic Targeting [PDF]

MedComm
Heat shock proteins (HSPs) are molecular chaperones that couple proteostasis to cancer metabolic reprogramming under oncogenic and microenvironmental stress.
Sheng Ma, Chen‐Qian Liu, Si‐Yang Ma, Shao‐Gang Wang, Qi‐Dong Xia, Meng‐Yao Xu   +5 more
doaj   +2 more sources

Chaperone Therapy in Fabry Disease. [PDF]

Int J Mol Sci, 2022
Weidemann F, Jovanovic A, Herrmann K, Vardarli I.   +3 more
europepmc   +2 more sources

A review and recommendations for oral chaperone therapy in adult patients with Fabry disease [PDF]

Orphanet Journal of Rare Diseases
Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting both males and females caused by genetic abnormalities in the gene encoding the enzyme α-galactosidase A.
Michał Nowicki, Stanisława Bazan-Socha, Beata Błażejewska-Hyżorek, Mariusz M. Kłopotowski, Monika Komar, Mariusz A. Kusztal, Tomasz Liberek, Jolanta Małyszko, Katarzyna Mizia-Stec, Zofia Oko-Sarnowska, Krzysztof Pawlaczyk, Piotr Podolec, Jarosław Sławek, on behalf of the Polish Fabry Disease Collaborative Group   +13 more
doaj   +2 more sources

Molecular chaperone therapy- the future in cancer [PDF]

Infectious Agents and Cancer, 2012
Shehzad Abdul, Dawani Om, Munir Shehryar, Hussain Syed   +3 more
doaj   +2 more sources

Treatment of Fabry Disease: Established and Emerging Therapies

Pharmaceuticals, 2023
Fabry disease (FD) is a rare, X-linked inherited disorder of glycosphingolipid metabolism. It leads to the progressive accumulation of globotriaosylceramide within lysosomes due to a deficiency of α-galactosidase A enzyme.
Muhammad Umer, Dinesh K. Kalra
doaj   +1 more source

Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study

Frontiers in Medicine, 2023
ObjectiveFabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation.
Daniel G. Bichet, Robert J. Hopkin, Patrício Aguiar, Patrício Aguiar, Sridhar R. Allam, Sridhar R. Allam, Yin-Hsiu Chien, Yin-Hsiu Chien, Roberto Giugliani, Roberto Giugliani, Staci Kallish, Sabina Kineen, Olivier Lidove, Olivier Lidove, Dau-Ming Niu, Dau-Ming Niu, Iacopo Olivotto, Juan Politei, Paul Rakoski, Roser Torra, Camilla Tøndel, Camilla Tøndel, Derralynn A. Hughes   +22 more
doaj   +1 more source

Treatment of Fabry Nephropathy: A Literature Review

Medicina, 2023
Fabry disease is an X-linked inherited lysosomal storage disorder with a deficiency of α-galactosidase A activity, which results in the intracellular accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in various organs.
Homare Shimohata, Marina Yamashita, Kota Yamada, Kouichi Hirayama, Masaki Kobayashi   +4 more
doaj   +1 more source