Results 71 to 80 of about 2,248,227 (207)

AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease

Journal of Lipid Research, 2017
Niemann-Pick type C (NPC) disease is a fatal inherited neurodegenerative disorder caused by loss-of-function mutations in the NPC1 or NPC2 gene. There is no effective way to treat NPC disease.
Chang Xie, Xue-Min Gong, Jie Luo, Bo-Liang Li, Bao-Liang Song   +4 more
doaj   +1 more source

The Pick Knitwear Story, Book Two: 1956-1991

, 1991
An account of ]. PICK & SONS LTD LEICESTER Manufacturers for a hundred years.
Pick, J. B.
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Letter to the Editor Regarding Panvino et al. “Pharmacological Treatment of Cerebellar Ataxia in Pediatric Ataxia‐Telangiectasia: A Systematic Review”

European Journal of Neurology, Volume 33, Issue 10, October 2026.
Fabiola Panvino, Serena Galosi, Carlotta Spagnoli, Vincenzo Leuzzi, Francesco Pisani   +4 more
wiley   +1 more source

Induced pluripotent stem cell models of lysosomal storage disorders

Disease Models & Mechanisms, 2017
Induced pluripotent stem cells (iPSCs) have provided new opportunities to explore the cell biology and pathophysiology of human diseases, and the lysosomal storage disorder research community has been quick to adopt this technology.
Daniel K. Borger, Benjamin McMahon, Tamanna Roshan Lal, Jenny Serra-Vinardell, Elma Aflaki, Ellen Sidransky   +5 more
doaj   +1 more source

Short-lived Niemann-Pick type C mice with accelerated brain aging as a novel model for Alzheimer’s disease research

Neural Regeneration Research
Alzheimer’s disease is initially thought to be caused by age-associated accumulation of plaques, in recent years, research has increasingly associated Alzheimer’s disease with lysosomal storage and metabolic disorders, and the explanation of its ...
Vikas Anil Gujjala, Morteza Abyadeh, Isaiah Klimek, Alexander Tyshkovskiy, Naci Oz, José Pedro Castro, Vadim N. Gladyshev, Jason Newton, Alaattin Kaya   +8 more
doaj   +1 more source

NPD TYPE C — WAY TO THE EFFECTIVE THERAPY THROUGH TIMELY DIAGNOSIS

Педиатрическая фармакология, 2011
In recent years in expanding diagnostic capabilities and improved knowledge level diseases that were previously considered rare become increasingly identified.
L.S. Namazova-Baranova, L.S. Vysotskaya, A.M. Mamed"yarov, T.V. Margieva, N.D. Vashakmadze, A.K. Gevorkyan   +5 more
doaj   +2 more sources

Niemann-Pick disease and hemophagocytic syndrome

, 2012
Hemophagocytic syndromes represent a severe hyperinflammatory condition with the cardinal symptoms of prolonged fever, cytopenias, hepatosplenomegaly and hemophagocytosis induced by activated, morphologically benign macrophages.
KENDİRCİ, Mustafa, TORUN, Yasemin Altuner, CANPOLAT, Mehmet, Ozdemir, Mehmet Akif, ASLAN, DURAN   +4 more
core   +1 more source

The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment

Diagnostics
The liver, given its role as the central metabolic organ, is involved in many inherited metabolic disorders, including lysosomal storage diseases (LSDs).
Patryk Lipiński, Anna Tylki-Szymańska
doaj   +1 more source

Analysis of Genetic Variation of rs1542705 Marker in SMPD1 Gene Region as an Informative Marker for Molecular Diagnosis of Niemann-Pick Disease in Isfahan Population [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2016
Background: Niemann-Pick disease (NPD) refers to a group of lysosomal storage diseases that causes abnormal metabolism of lipids. One of the genes that play a role in the pathogenesis of this disease is SMPD1.
Nasim Ebrahimi, Sadegh Vallian Borujeni
doaj  

'The role of ferroptosis in Niemann-Pick disease'

openLa malattia di Niemann-Pick di tipo C (NPCD) è una malattia genetica rara appartenente al gruppo di malattie da accumulo lisosomiale. Questa patologia è principalmente causata dalla mutazione del gene npc1 che codifica per una proteina della ...
MAIORINO, SOFIA
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