Results 31 to 40 of about 2,627 (188)

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

Auswirkungen von Miglustat bzw. einer Kombination aus Miglustat, Cyclodextrin und Allopregnanolon auf das Lernverhalten und die motorische Koordination von BALB/c-Wildtypmäusen [PDF]

, 2017
Der Morbus Niemann-Pick Typ C1 ist eine seltene, lysosomale Speicherkrankheit, die autosomal-rezessiv vererbt wird. Es wurde gezeigt, dass NPC1-/- mutierte Mäuse, thrapiert mit Miglustat/Cyclodextrin/Allopregnanolon, davon profitieren.
Schlegel, Victoria, Schlegel, Victoria (gnd: 1142547132)   +1 more
core   +1 more source

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

, 2007
Background: Niemann-Pick type C disease (NPC) is an inherited neurodegenerative disorder characterised by an intracellular lipid-trafficking defect with secondary accumulation of glycosphingolipids.
Vecchio, Darleen, Patterson, Marc C., Prady, Helena, Wraith, James E., Abel, Larry   +4 more
core   +2 more sources

The development and use of small molecule inhibitors of glycosphingolipid metabolism for lysosomal storage diseases

Journal of Lipid Research, 2014
Glycosphingolipid (GSL) storage diseases have been the focus of efforts to develop small molecule therapeutics from design, experimental proof of concept studies, and clinical trials.
James A. Shayman, Scott D. Larsen
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

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

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

Comparison of the effect of miglustat and GnRH.

, 2014
Comparison of the time-dependent effect of GnRH or miglustat upon F508del-CFTR function in CFBE41o- cells (A) and in CFBE41o−/F508del cells (B). CFTR activity was assessed with the iodide effluxes technique in the presence of forskolin (10 µM) plus ...
Frédéric Becq (524340), Sophie Le Hir (317763), Pascal Trouvé (317768), Nathalie Benz (317766), Claude Férec (204332), Mathieu Kerbiriou (317760), Caroline Norez (524338), Marie-Laure Calvez (524339)   +7 more
core   +1 more source