Results 61 to 70 of about 7,107 (122)

Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1

Neurobiology of Disease, 2009
Niemann-Pick disease type C1 (NPC1) is a neurodegenerative lysosomal disorder characterized by sphingolipid and cholesterol storage in the late endocytic system.
David Smith, Kerri-Lee Wallom, Ian M. Williams, Mylvaganam Jeyakumar, Frances M. Platt   +4 more
doaj   +1 more source

A differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, Type C1. [PDF]

Proteomics, 2023
Li W, Pergande MR, Crutchfield CA, Searle BC, Backlund PS, Picache JA, Burkert K, Yanjanin-Farhat NM, Blank PS, Toth CL, Wassif CA, Porter FD, Cologna SM.   +12 more
europepmc   +1 more source

Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1. [PDF]

Mol Genet Metab, 2023
Cawley NX, Giddens S, Farhat NM, Luke RA, Scott KEJ, Mohamed HO, Dang Do A, Berry-Kravis E, Cologna SM, Liu F, Porter FD.   +10 more
europepmc   +1 more source

Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1. [PDF]

Am J Med Genet A, 2021
Rodriguez-Gil JL, Bianconi SE, Farhat N, Kleiner DE, Nelson M, Porter FD.   +5 more
europepmc   +1 more source

Complex N-Linked Glycosylation: A Potential Modifier of Niemann-Pick Disease, Type C1 Pathology. [PDF]

Int J Mol Sci, 2022
Cawley NX, Lyons AT, Abebe D, Luke R, Yerger J, Telese R, Wassif CA, Bailey-Wilson JE, Porter FD.   +8 more
europepmc   +1 more source

Plenary Abstracts Session & Oral Presentations

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1. [PDF]

Mol Genet Metab, 2021
Cougnoux A, Yerger JC, Fellmeth M, Serra-Vinardell J, Navid F, Wassif CA, Cawley NX, Porter FD.   +7 more
europepmc   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1. [PDF]

Genet Med, 2023
Agrawal N, Farhat NY, Sinaii N, Do AD, Xiao C, Berry-Kravis E, Bianconi S, Masvekar R, Bielekova B, Solomon B, Porter FD.   +10 more
europepmc   +1 more source

From autophagy–lysosomal deficits to neurodegeneration in Niemann-Pick type C1 disease: implications for age-related neurodegenerative disorders

Frontiers in Neuroscience
Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder caused by loss-of-function mutations in the NPC1 gene. NPC1 deficit primarily disrupts lipid homeostasis and subsequently drives cellular degeneration through ...
Yuki Kawachi, Gamze Kocak, Viktor I. Korolchuk, Tetsushi Kataura, Sovan Sarkar   +4 more
doaj   +1 more source