Results 1 to 10 of about 2,627 (188)

Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C [PDF]

Neurobiology of Disease, 2004
Niemann–Pick disease type C (NP-C) is a hereditary neurovisceral lipid storage disorder. Although traditionally considered a primary cholesterol storage disorder, a variety of glycolipids accumulate in NP-C cells, which resemble those from ...
Frances Platt, Danielle Taylor-te Vruchte, Robin Lachmann   +2 more
exaly   +4 more sources

The sensitivity of murine spermiogenesis to miglustat is a quantitative trait: a pharmacogenetic study [PDF]

Reproductive Biology and Endocrinology, 2007
Background A major event in the post-meiotic development of male germ cells is the formation of the acrosome. This process can be perturbed in C57BL/6 mice by administration of the small molecule miglustat (N-butyldeoxynojirimycin, NB-DNJ). The miglustat-
Boomkamp Stephanie, Gottwald Ulrich, Leifke Eckhard, Fritsch Martin, Voigtmann Ulrike, Walden Charlotte M, Bone Wilhelm, Platt Frances M, van der Spoel Aarnoud C   +8 more
doaj   +2 more sources

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C [PDF]

Orphanet Journal of Rare Diseases, 2012
Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Published data on the use of miglustat in paediatric patients in clinical practice settings are
Héron Bénédicte, Valayannopoulos Vassili, Baruteau Julien, Chabrol Brigitte, Ogier Hélène, Latour Philippe, Dobbelaere Dries, Eyer Didier, Labarthe François, Maurey Hélène, Cuisset Jean-Marie, de Villemeur Thierry, Sedel Frédéric, Vanier Marie T   +13 more
doaj   +2 more sources

Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease [PDF]

Therapeutic Advances in Rare Disease
Late-onset Pompe disease (LOPD) is a rare inherited disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to an accumulation of lysosomal glycogen in tissues, profoundly affecting muscles.
Robert J. Hopkin, Barry J. Byrne, Mazen M. Dimachkie, Priya S. Kishnani, Tahseen Mozaffar, Mark Roberts, Benedikt Schoser, Nadine A. M. E. van der Beek, Ans T. van der Ploeg, Stephan Wenninger, Jon Brudvig, Brian Fox, Fred Holdbrook, Vipul Jain, Franklin Johnson, Jennifer Zhang, Giancarlo Parenti   +16 more
doaj   +2 more sources

Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N-of-1 Trial with 21 months Clinical Observation [PDF]

Neurology and Therapy
Importance Tangier disease (TD) is an ultra-rare disease, characterised by progressive peripheral neuropathy with no established treatment. Objectives To determine whether miglustat improved the clinical status of a single patient with TD, and to ...
Andrew Cook, Beth Stuart, Antonio Ochoa-Ferraro, Nicola Condon, Megan Lawrence, Fran Webley, Kerri-Lee Wallom, Claire Forbes, Vishy Veeranna, Subadra Wanninayake, Tom Oliver, Nicholas Davies, Charlotte Dawson, Frances Platt, Tarekegn Geberhiwot   +14 more
doaj   +2 more sources

Clinical characteristics and treatment outcomes in patients with Niemann–Pick disease type C (NP-C): a cross-sectional study [PDF]

Orphanet Journal of Rare Diseases
Background Niemann–Pick disease type C (NP-C) is a rare autosomal recessive lysosomal storage disorder characterized by progressive neurodegeneration.
Parvaneh Karimzadeh, Farzad Ahmadabadi, Vahide Zeinali, Sharareh Kamfar, Mahmoud Reza Ashrafi, Ali Reza Tavasoli, Seyed Hassan Tonekaboni, Faezeh Ghanaati   +7 more
doaj   +2 more sources

Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project

Haematologica, 2009
There are few published data from real-world clinical experience with miglustat (Zavesca®), an oral inhibitor of glucosylceramide synthase, in type 1 Gaucher disease.
Pilar Giraldo, Pilar Alfonso, Koldo Atutxa, María A. Fernández-Galán, Abelardo Barez, Rafael Franco, Dora Alonso, Alejandro Martin, Paz Latre, Miguel Pocovi   +9 more
doaj   +1 more source

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

Orphanet Journal of Rare Diseases, 2023
Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurodegeneration and premature death. While miglustat can stabilize neurological manifestations in later onset forms of NP-
Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Brigitte Chabrol, Didier Eyer, François Labarthe, Philippe Latour, Thierry Levade, Samia Pichard, Caroline Sevin, Marie T. Vanier, Bénédicte Héron   +13 more
doaj   +1 more source

Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease

Cells, 2022
CLN5 disease (MIM: 256731) represents a rare late-infantile form of neuronal ceroid lipofuscinosis (NCL), caused by mutations in the CLN5 gene that encodes the CLN5 protein (CLN5p), whose physiological roles stay unanswered.
Stefano Doccini, Maria Marchese, Federica Morani, Nicola Gammaldi, Serena Mero, Francesco Pezzini, Rabah Soliymani, Melissa Santi, Giovanni Signore, Asahi Ogi, Silvia Rocchiccioli, Katja M. Kanninen, Alessandro Simonati, Maciej M. Lalowski, Filippo M. Santorelli   +14 more
doaj   +1 more source

N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV

Neurobiology of Disease, 2017
Mucolipidosis type IV (MLIV) is a lysosomal storage disease exhibiting progressive intellectual disability, motor impairment, and premature death. There is currently no cure or corrective treatment. The disease results from mutations in the gene encoding
Lauren C. Boudewyn, Jakub Sikora, Ladislav Kuchar, Jana Ledvinova, Yulia Grishchuk, Shirley L. Wang, Kostantin Dobrenis, Steven U. Walkley   +7 more
doaj   +1 more source