Results 21 to 30 of about 2,627 (188)

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

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C. [PDF]

J Inherit Metab Dis
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Hiwot T, Porter FD, Bremova-Ertl T, Ramaswami U, Hastings C, Héron B, Hopkin J, Melville J, Amartino H, Del Toro M, Deodato F, Ezgü F, Gissen P, Gibson JB, Ficicioglu C, Giugliani R, Staretz-Chacham O, Platt F, Guffon N, Julich K, Kresojević N, Lehman A, Nadjar Y, Schneider SA, Jones S, Mengel E, Tchan M, Walterfang M, Goker-Alpan O, Dawson C, Cowie S, Mathieson T, Berry-Kravis E, Patterson MC.   +33 more
europepmc   +2 more sources

Off-Target Binding of Miglustat to Glycogen Debranching Enzyme [PDF]

Int J Mol Sci
The iminosugar N-butyldeoxynojirimycin (Miglustat) is clinically used for the inhibition of ceramide glucosyltransferase for treating Type 1 Gaucher and Niemann–Pick type C diseases.
Barber D, Mishra N, Hegarty F, Paz A.
europepmc   +2 more sources

An Australian standard of care for Niemann-Pick disease type C. [PDF]

Intern Med J
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Tchan M, Smith N, Peters H, Van Velsen E, Marraffa C, Ellaway C, Cruz K, Mohammad SS, Kava M, Yaplito-Lee J, Balasubramaniam S, Rahman Y, Boot B, Bush A, Munro F, Hamoy L, Hung YH, Johnston P, Carpino D, Williams M, Kiss S, Quin R, Sutherland I, Walterfang M.   +23 more
europepmc   +2 more sources

Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C

Molecular Genetics and Metabolism Reports, 2021
Niemann-Pick disease Type C (NPC) is a rare autosomal recessive neurovisceral lysosomal disorder. Perinatal and early infantile onset NPC are the most severe types of the disease.
Shiri Curelaru, Yoav Zehavi, Tal Almagor, Ronen Spiegel   +3 more
doaj   +1 more source

Randomized, controlled trial of miglustat in Gaucher's disease type 3

, 2008
To evaluate the efficacy and safety of miglustat, concomitant with enzyme replacement therapy (ERT), in patients with Gaucher's disease type 3 (GD3).
Schiffmann, Raphael, Fitzgibbon, Edmond J., Benko, William, Harris, Chris, Ries, Markus, DeVile, Catherine, Davies, Elin H., Abel, Larry, van Schaik, Ivo N., Timmons, Margaret, Vellodi, Ashok   +10 more
core   +2 more sources

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

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   +1 more source

Nutrition management of Niemann Pick disease type C: A case report

Endocrine Regulations, 2021
Objectives. We aim to report the clinical repercussions of a nutritional approach in a patient diagnosed with Niemann Pick disease type C (NPC) using miglustat as pharmacological therapy.
Viana dos Santos Rejane, das Neves Ferreira Tamila, Oliveira de Almeida Daniela, Brito da Silva Fatal Lilian, Queiroz Araujo Edilene Maria   +4 more
doaj   +1 more source

Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C

Molecular Genetics and Metabolism Reports, 2021
Background: Niemann-Pick disease type C (NP-C) is a neurodegenerative disease for which only palliative treatment exists, and only miglustat is effective in stabilizing neurological manifestations of NP-C.
A. Höller, U. Albrecht, S. Baumgartner Sigl, T. Zöggeler, G. Ramoser, B. Bernar, D. Karall, S. Scholl-Bürgi   +7 more
doaj   +1 more source

GBA2-encoded β-glucosidase activity is involved in the inflammatory response to Pseudomonas aeruginosa.

PLoS ONE, 2014
Current anti-inflammatory strategies for the treatment of pulmonary disease in cystic fibrosis (CF) are limited; thus, there is continued interest in identifying additional molecular targets for therapeutic intervention.
Nicoletta Loberto, Maela Tebon, Ilaria Lampronti, Nicola Marchetti, Massimo Aureli, Rosaria Bassi, Maria Grazia Giri, Valentino Bezzerri, Valentina Lovato, Cinzia Cantù, Silvia Munari, Seng H Cheng, Alberto Cavazzini, Roberto Gambari, Sandro Sonnino, Giulio Cabrini, Maria Cristina Dechecchi   +16 more
doaj   +1 more source