Results 81 to 90 of about 1,916,945 (216)

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

Frontiers in Immunology, 2019
The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer T (iNKT) cell response were detected in several mouse models of lysosomal storage diseases ...
Catia S. Pereira, Catia S. Pereira, Begoña Pérez-Cabezas, Begoña Pérez-Cabezas, Helena Ribeiro, Helena Ribeiro, Helena Ribeiro, M. Luz Maia, M. Teresa Cardoso, Ana F. Dias, Olga Azevedo, M. Fatima Ferreira, Paula Garcia, Esmeralda Rodrigues, Paulo Castro-Chaves, Esmeralda Martins, Patricio Aguiar, Mercè Pineda, Yasmina Amraoui, Simona Fecarotta, Elisa Leão-Teles, Shenglou Deng, Paul B. Savage, M. Fatima Macedo, M. Fatima Macedo, M. Fatima Macedo   +25 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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Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

, 2014
Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000.
簡穎秀, Walterfang, Mark;Chien, Yin-Hsiu;Imrie, Jackie;Rushton, Derren;Schubiger, Danielle;Patterson, Marc C.   +1 more
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Promethean Parenting: the family of Niemann-Pick patients.

, 2010
The Niemann-Pick is an autosomal, recessive, rare and with a variable genomic imprinting disease. It involves three phenotypicalities (MNP-A, MNP-B, MNP-C) that differ by age of onset, symptoms and complexity of prognosis with a rather linear maintenance
ACQUARINI, ELENA
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A case of Niemann – Pick disease type C

Неврология, нейропсихиатрия, психосоматика, 2013
The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases.
Sergei Anatolyevich Klyushnikov, O R Smirnov, E Yu Zakharova   +2 more
doaj   +1 more source

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

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

'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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