Results 11 to 20 of about 3,855 (201)

Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study [PDF]

Orphanet Journal of Rare Diseases, 2012
Background Previous studies have provided equivocal data on the use of miglustat as maintenance therapy in Gaucher disease type 1. We report findings from a clinical trial evaluating the effects of miglustat treatment in patients with stable type 1 ...
Cox Timothy M, Amato Dominick, Hollak Carla EM, Luzy Cecile, Silkey Mariabeth, Giorgino Ruben, Steiner Robert D   +6 more
doaj   +3 more sources

Miglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC Disease [PDF]

Neural Plasticity, 2016
Niemann-Pick type C disease is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endolysosomal compartment of cells and accumulation of gangliosides and other sphingolipids ...
G. D’Arcangelo, D. Grossi, M. Racaniello, A. Cardinale, A. Zaratti, S. Rufini, A. Cutarelli, V. Tancredi, D. Merlo, C. Frank   +9 more
doaj   +5 more sources

Targeting Mitochondrial Stress Responses: Terbinafine and Miglustat as Novel Lifespan and Healthspan Modulators. [PDF]

Aging Cell
Terbinafine and miglustat are mitohormetic compounds that extend lifespan and healthspan. In C. elegans, these FDA‐approved drugs engage both ATFS‐1 and DAF‐16, highlighting a stress‐dependent coordination between mitochondrial and IIS pathways distinct from canonical IIS activation, relevant for healthy aging.
Lalou A, Daskalaki I, Gkikas I, Rodríguez-López S, Morel JD, Benegiamo G, Faure A, Gao AW, Barmaz J, Wang Q, Li TY, Gao F, Broustail D, Schoonjans K, D'Angelo G, Auwerx J.   +15 more
europepmc   +2 more sources

Miglustat in Alzheimer's Disease Associated With Heterozygous NPC1 Mutation: Exploratory Case Series and Preliminary Findings. [PDF]

Eur J Neurol
Three AD patients sharing the same heterozygous NPC1 mutation were orally treated with miglustat for 12 months and underwent monthly clinical and neuropsychological evaluations, brain amyloid‐PET imaging, and biochemical analyses on plasma and CSF. All three patients achieved clinical stability, showed a sustained reduction in serum oxysterol levels ...
Lopergolo D, Gasparini D, Bianchi S, Pucci B, Tripodi D, Leoni V, Chincarini A, Sestini S, Zetterberg H, De Stefano N, Mignarri A.   +10 more
europepmc   +2 more sources

The cognitive profile of type 1 Gaucher disease patients [PDF]

, 2018
This is the final version of the article. Available from the publisher via the DOI in this record.BACKGROUND: The absence of neurological symptoms and signs is traditionally considered mandatory for a diagnosis of type 1 Gaucher disease (GD1), but in ...
Biegstraaten, M, Giraldo, P, Hollak, CEM, Hughes, D, Luzy, C, Maródi, L, Mehta, A, Mengel, K-E, Mrsic, M, Niederau, C, Petakov, M, van Schaik, IN, Wesnes, KA   +12 more
core   +12 more sources

Linear cyclodextrin polymer prodrugs as novel yherapeutics for Niemann-Pick type C1 disorder [PDF]

, 2018
Niemann-Pick Type C1 disorder (NPC) is a rare lysosomal storage disease characterized by the accumulation of cholesterol in lysosomes. NPC has no FDA approved treatments yet, however 2-hydroxypropyl-β-cyclodextrin (HPβCD) has shown efficacy for treating ...
Aditya Kulkarni, Alberto Macone, Atul Dolas, Jessica Dragotto, Maria Teresa Fiorenza, Paola Caporali, Ramesh Jayaraman, Sandeep Goyal, Soniya Johny   +8 more
core   +1 more source

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase. [PDF]

, 2015
UnlabelledMigalastat HCl (AT1001, 1-Deoxygalactonojirimycin) is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A) deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder. The currently
Adera, Mathews, Barlow, Carrolee, Barth, Jay, Bichet, Daniel G, Boudes, Pol, Eyskens, Francois, Flanagan, John J, Goker-Alpan, Ozlem, Holida, Myrl, Johnson, Franklin K, Khanna, Richie, Lockhart, David J, Nicholls, Kathy, Shankar, Suma, Sitaraman, Sheela, Thomas, Mark, Valenzano, Kenneth J, Warnock, David G, Wustman, Brandon A   +18 more
core   +10 more sources

Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat [PDF]

, 2015
Peer reviewedPublisher ...
Abel, Larry A, Bowman, Elizabeth A, Stainer, Matthew J, Velakoulis, Dennis, Walterfang, Mark   +4 more
core   +3 more sources

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

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