Results 41 to 50 of about 48,564 (222)

Single Cell Transcriptome Analysis of Niemann–Pick Disease, Type C1 Cerebella

International Journal of Molecular Sciences, 2020
Niemann–Pick disease, type C1 (NPC1) is a lysosomal disease characterized by endolysosomal storage of unesterified cholesterol and decreased cellular cholesterol bioavailability. A cardinal symptom of NPC1 is cerebellar ataxia due to Purkinje neuron loss.
A. Cougnoux, Julia Yerger, Mason Fellmeth, Jenny Serra-Vinardell, Kyle B. Martin, Fatemeh Navid, J. Iben, C. Wassif, N. Cawley, F. Porter   +9 more
semanticscholar   +1 more source

Gene Therapy in a Mouse Model of Niemann–Pick Disease Type C1

Human Gene Therapy, 2020
Niemann–Pick disease type C1 (NPC1) is a fatal congenital neurodegenerative disorder caused by mutations in the NPC1 gene, which is involved in cholesterol transport in lysosomes.
Y. Kurokawa, H. Osaka, Takeshi Kouga, E. Jimbo, K. Muramatsu, Sachie Nakamura, Yuki Takayanagi, T. Onaka, S. Muramatsu, T. Yamagata   +9 more
semanticscholar   +1 more source

Fostering collaborative research for rare genetic disease: The example of Niemann-Pick type C disease [PDF]

, 2016
Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the
Austin, Christopher P, Davidson, Cristin D, Jacoby, Jonathan, Marella, Philip D, Ory, Daniel S, Ottinger, Elizabeth A, Porter, Forbes D, Vite, Charles H, Walkley, Steven U   +8 more
core   +2 more sources

Human iNSC-derived brain organoid model of lysosomal storage disorder in Niemann–Pick disease type C

Cell Death and Disease, 2020
Recent studies on developing three-dimensional (3D) brain organoids from stem cells have allowed the generation of in vitro models of neural disease and have enabled the screening of drugs because these organoids mimic the complexity of neural tissue ...
Seung-Eun Lee, Nari Shin, Myung Geun Kook, Dasom Kong, Nam-Gyo Kim, S. Choi, K. Kang   +6 more
semanticscholar   +1 more source

Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann–Pick diseases

BMC Medicine, 2019
Background Niemann–Pick disease type C is a fatal and progressive neurodegenerative disorder characterized by the accumulation of unesterified cholesterol in late endosomes and lysosomes.
Mark L. Schultz, Maria V. Fawaz, Ruth D. Azaria, Todd C. Hollon, Elaine A. Liu, Thaddeus J. Kunkel, Troy A. Halseth, Kelsey L. Krus, Ran Ming, Emily E. Morin, Hayley S. McLoughlin, David D. Bushart, Henry L. Paulson, Vikram G. Shakkottai, Daniel A. Orringer, Anna S. Schwendeman, Andrew P. Lieberman   +16 more
doaj   +1 more source

Intestinal Acid Sphingomyelinase Protects From Severe Pathogen-Driven Colitis [PDF]

, 2019
Inflammatory diseases of the gastrointestinal tract are emerging as a global problem with increased evidence and prevalence in numerous countries. A dysregulated sphingolipid metabolism occurs in patients with ulcerative colitis and is discussed to ...
Becker, Katrin A., Ebel, Jana-Fabienne, Hose, Matthias [u.v.m.], Japtok, Lukasz, Klopfleisch, Robert, Meiners, Jana, Palmieri, Vittoria, Schumacher, Fabian, Yusuf, Ayan Mohamud, Zöller, Julia   +9 more
core   +1 more source

A master protocol to investigate a novel therapy acetyl-l-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia

Trials, 2021
Background The lack of approved treatments for the majority of rare diseases is reflective of the unique challenges of orphan drug development. Novel methodologies, including new functionally relevant endpoints, are needed to render the development ...
T. Fields, M. Patterson, T. Bremova-Ertl, G. Belcher, I. Billington, G. C. Churchill, W. Davis, W. Evans, S. Flint, A. Galione, U. Granzer, J. Greenfield, R. Karl, R. Kay, D. Lewi, T. Mathieson, T. Meyer, D. Pangonis, F. M. Platt, L. Tsang, C. Verburg, M. Factor, M. Strupp   +22 more
doaj   +1 more source

Knowledge-based gene expression classification via matrix factorization [PDF]

, 2008
Motivation: Modern machine learning methods based on matrix decomposition techniques, like independent component analysis (ICA) or non-negative matrix factorization (NMF), provide new and efficient analysis tools which are currently explored to analyze ...
A. M. Tomé, Affymetrix, Allison, Baldi, Barnhill, Bolstad, Breiman, Cardoso, Cardoso, Chen, D. Lutter, Diaz-Uriarte, Diaz-Uriarte, Dougherty, Dougherty, Dudoit, E. W. Lang, F. J. Theis, G. Schmitz, Galton, Galton, Golub, Guyon, Hochreiter, Irrizarry, Lee, Li, Liebermeister, Liu, Lutter, M. Stetter, Mangasarian, P. Gómez Vilda, P. Knollmüller, Pearson, Quackenbush, R. Schachtner, Saidi, Schachtner, Schachtner, Schölkopf, Simon, Spang, Talloen, Troyanskaya, Tusher, Wu, Wu   +47 more
core   +3 more sources

Generation of the Niemann–Pick type C2 patient-derived iPSC line AKOSi001-A

Stem Cell Research, 2019
Niemann-Pick disease Type C (NPC) is a rare progressive neurodegenerative disorder with an incidence of 1:120,000 caused by mutations in the NPC1 or NPC2 gene. Only 5% of NPC patients suffer from mutations of the NPC2 gene.
Christin Völkner, Franziska Peter, Maik Liedtke, Saskia Krohn, Iris Lindner, Hugo Murua Escobar, Chiara Cimmaruta, Jan Lukas, Andreas Hermann, Moritz J. Frech   +9 more
doaj   +1 more source

Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum [PDF]

, 2005
In contrast to the common and genetically complex senile form of Alzheimer's disease (AD), the molecular genetic dissection of inherited presenile dementias has given important mechanistic insights into the pathogenesis of degenerative brain disease ...
Cruts, Marc, Dermaut, Bart, Kumar-Singh, Samir, Rademakers, Rosa, Theuns, Jessie, Van Broeckhoven, Christine   +5 more
core   +1 more source