Results 31 to 40 of about 3,855 (201)

Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease

Pharmaceuticals, 2023
Pompe disease is a lysosomal storage disorder with impaired glycogen degradation caused by a deficiency of the enzyme acid α-glucosidase (GAA). Children with the severe infantile form do not survive beyond the first year of life without treatment.
Lina Fiege, Ibrahim Duran, Thorsten Marquardt   +2 more
doaj   +1 more source

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review

Orphanet Journal of Rare Diseases, 2019
Background Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder characterized by progressive neurodegenerative symptomatology. The signs and symptoms of NP-C vary with age at disease onset, and available therapies are directed at ...
Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolnikova, Vera Malinova, Jose Luis Insua, Christian Velten, Stefan A. Kolb   +7 more
doaj   +1 more source

Cognitive impairment profile in adult patients with Niemann pick type C disease

Orphanet Journal of Rare Diseases, 2017
Background Cognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available.
Camille Heitz, Stéphane Epelbaum, Yann Nadjar   +2 more
doaj   +1 more source

Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry

Orphanet Journal of Rare Diseases, 2020
Background Niemann-Pick disease Type C (NP-C) is a rare, progressive neurodegenerative disorder characterized by progressive neurodegeneration and premature death.
Marc C. Patterson, Eugen Mengel, Marie T. Vanier, Patrick Moneuse, Daniel Rosenberg, Mercedes Pineda   +5 more
doaj   +1 more source

Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway [PDF]

, 2016
Background. Tuberculosis remains a major global health concern. The ability to prevent phagosome-lysosome fusion is a key mechanism by which intracellular mycobacteria, including Mycobacterium tuberculosis, achieve long-term persistence within host cells.
A Morgan, A Pandey, C Chen, C Davidson, C Pacheco, C Ramirez, C Settembre, C Varela, D Bowdish, D Dao, D Höglinger, D Neville, D Russell, D Russell, D Sleat, D te Vruchte, E Lloyd-Evans, E Lloyd-Evans, E Millard, F Camargo, F Chen, F Lu, F Platt, F Stein, G Besra, I Vergne, I Vergne, J Armstrong, J Bilmen, J Carette, J Davies, J Gray, J Indrigo, J Verschoor, J Wraith, J Wu, K Tahlan, K Takayama, M Beukes, M Katti, M Kim, M Majeed, M Patterson, M Patterson, M Pineda, M Tsai, M Vanier, M Vanier, N Lack, P Domenech, P Fineran, P Peyron, P Woodruff, R Hunter, R Infante, R Jayachandran, R Lachmann, R Lang, S Axelrod, S Naureckiene, S Sturgill-Koszycki, S Zimmerli, T Evans, T Schwerd, V Rao, V Stein, W Beatty, W Lee, X Gong, X He, X Li, Y Benadie, Y Fujita, Z Malik   +73 more
core   +3 more sources

Inhibitors of Protein Glycosylation Are Active against the Coronavirus Severe Acute Respiratory Syndrome Coronavirus SARS-CoV-2

Viruses, 2021
Repurposing clinically available drugs to treat the new coronavirus disease 2019 (COVID-19) is an urgent need in the course of the Severe Acute Respiratory Syndrome coronavirus (SARS-CoV-2) pandemic, as very few treatment options are available.
Sreejith Rajasekharan, Rafaela Milan Bonotto, Lais Nascimento Alves, Yvette Kazungu, Monica Poggianella, Pamela Martinez-Orellana, Natasa Skoko, Sulena Polez, Alessandro Marcello   +8 more
doaj   +1 more source

Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience

Molecular Genetics & Genomic Medicine, 2020
Background In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and ...
Rita Fischetto, Valentina Palladino, Maria M. Mancardi, Thea Giacomini, Stefano Palladino, Alberto Gaeta, Maja Di Rocco, Lucia Zampini, Giuseppe Lassandro, Vito Favia, Maria E. Tripaldi, Pietro Strisciuglio, Alfonso Romano, Mariasavina Severino, Amelia Morrone, Paola Giordano   +15 more
doaj   +1 more source

Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat [PDF]

, 2014
Objective: Eliglustat is an investigational oral substrate reduction therapy for Gaucher disease type 1 (GD1). Its skeletal effects were evaluated by prospective monitoring of bone mineral density (BMD), fractures, marrow infiltration by Gaucher cells ...
Aguzzi, Rasha, Arreguin, Elsa Avila, Dragosky, Marta, Kamath, Ravi S., Lukina, Elena, Norfleet, Andrea M., Pastores, Gregory M., Peterschmitt, M. Judith, Puga, Ana Cristina, Rosenbaum, Hanna, Rosenthal, Daniel I., Watman, Nora, Zimran, Ari   +12 more
core   +1 more source

Cytosolic Glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease [PDF]

, 2019
A new paradigm for Niemann-Pick C disease is presented where lysosomal storage leads to a deficit in cytoplasmic glucosylceramide (GlcCer) where it performs important functions.
Bhardwaj, Meenakshi, Haberkant, Per, Schmid, Ralf, Sillence, Daniel J., Tongue, Paige, Wheeler, S.   +5 more
core   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source