Results 11 to 20 of about 12,273 (193)

A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1 [PDF]

BMC Biology, 2021
Background Niemann-Pick disease, type C (NPC) is a childhood-onset, lethal, neurodegenerative disorder caused by autosomal recessive mutations in the genes NPC1 or NPC2 and characterized by impaired cholesterol homeostasis, a lipid essential for cellular
Anika V. Prabhu, Insung Kang, Raffaella De Pace, Christopher A. Wassif, Hideji Fujiwara, Pamela Kell, Xuntian Jiang, Daniel S. Ory, Juan S. Bonifacino, Michael E. Ward, Forbes D. Porter   +10 more
doaj   +6 more sources

Olfactory deficits in Niemann-Pick type C1 (NPC1) disease.

PLoS ONE, 2013
BackgroundNiemann-Pick type C disease (NPC) is a rare autosomal recessive lipid storage disease characterized by progressive neurodegeneration. As only a few studies have been conducted on the impact of NPC on sensory systems, we used a mutant mouse ...
Marina Hovakimyan, Anja Meyer, Jan Lukas, Jiankai Luo, Volker Gudziol, Thomas Hummel, Arndt Rolfs, Andreas Wree, Martin Witt   +8 more
doaj   +4 more sources

Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann–Pick disease type C1 mice [PDF]

Life Science Alliance, 2021
This work highlights the importance of CNS transduction for treatment of neurological diseases, a finding with significant clinical implications considering the long-lasting effects of gene therapy.
Cristin D Davidson, Alana L Gibson, Tansy Gu, Laura L Baxter, Benjamin E Deverman, Keith Beadle, Arturo A Incao, Jorge L Rodriguez-Gil, Hideji Fujiwara, Xuntian Jiang, Randy J Chandler, Daniel S Ory, Viviana Gradinaru, Charles P Venditti, William J Pavan   +14 more
doaj   +2 more sources

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

EBioMedicine, 2016
Niemann Pick type C (NP-C) is a rare neurodegenerative disorder caused by an impairment of intracellular lipid transport. Due to the heterogeneous clinical phenotype and the lack of a reliable blood test, diagnosis and therapy are often delayed for years.
Janine Reunert, Manfred Fobker, Frank Kannenberg, Ingrid Du Chesne, Maria Plate, Judith Wellhausen, Stephan Rust, Thorsten Marquardt   +7 more
doaj   +3 more sources

Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease

Cell Reports, 2013
Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear.
Sovan Sarkar, Bernadette Carroll, Yosef Buganim, Dorothea Maetzel, Alex H.M. Ng, John P. Cassady, Malkiel A. Cohen, Souvik Chakraborty, Haoyi Wang, Eric Spooner, Hidde Ploegh, Joerg Gsponer, Viktor I. Korolchuk, Rudolf Jaenisch   +13 more
doaj   +5 more sources

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease [PDF]

Orphanet Journal of Rare Diseases, 2015
Background Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules. They occur at a frequency of about 1 in 5,000 live births,
Cortina-Borja, Mario, Eichler, Sabrina, Eisa, Nada Al, Giese, Anne-Katrin, Grittner, Ulrike, Kramp, Guido, Lukas, Jan, Mascher, Hermann, Platt, Frances M., Porter, Forbes D., Rolfs, Arndt, Vruchte, Danielle te   +11 more
core   +6 more sources

A hopeful therapy for Niemann-Pick C diseases [PDF]

Lancet, The, 2017
Not abstract ...
Erickson, Robert P., Fiorenza, Maria Teresa   +1 more
core   +3 more sources

Niemann–Pick disease type C1 presenting with psychosis in an adolescent male [PDF]

European Child & Adolescent Psychiatry, 2009
Niemann–Pick disease, a neurovisceral lysosomal lipid storage disorder, is a rare disorder that is unknown to many clinicians. The disease, that often has its onset during childhood or adolescence, shows a polymorphic clinical picture, including ...
Bachmann, Christian, Haberhausen, Michael, Jackowski-Dohrmann, Sabine, Ladner, Axel, Sandu, Sabine   +4 more
core   +7 more sources

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1 [PDF]

Disease Models & Mechanisms, 2020
Niemann-Pick disease type C1 (NPC1) is a rare, fatal neurodegenerative disorder characterized by lysosomal accumulation of unesterified cholesterol and glycosphingolipids.
Jorge L. Rodriguez-Gil, Dawn E. Watkins-Chow, Laura L. Baxter, Gene Elliot, Ursula L. Harper, Stephen M. Wincovitch, Julia C. Wedel, Arturo A. Incao, Mylene Huebecker, Frederick J. Boehm, William S. Garver, Forbes D. Porter, Karl W. Broman, Frances M. Platt, William J. Pavan   +14 more
doaj   +2 more sources

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1. [PDF]

Wellcome Open Res, 2022
Background: Niemann-Pick disease type C1 (NPC1) is a neurodegenerative lysosomal storage disorder characterized by the accumulation of multiple lipids in the late endosome/lysosomal system and reduced acidic store calcium. The lysosomal system regulates key aspects of iron homeostasis, which prompted us to investigate whether there are hematological ...
Chen OCW, Siebel S, Colaco A, Nicoli ER, Platt N, Shepherd D, Newman S, Armitage AE, Farhat NY, Seligmann G, Smith C, Smith DA, Abdul-Sada A, Jeyakumar M, Drakesmith H, Porter FD, Platt FM.   +16 more
europepmc   +3 more sources