Results 121 to 130 of about 25,991 (218)

Enhanced mGluR5 intracellular activity causes psychiatric alterations in Niemann Pick type C disease

Cell Death and Disease
Niemann-Pick disease Type C (NPC) is caused by mutations in the cholesterol transport protein NPC1 leading to the endolysosomal accumulation of the lipid and to psychiatric alterations.
Ana Toledano-Zaragoza, Violeta Enriquez-Zarralanga, Sara Naya-Forcano, Víctor Briz, Rocío Alfaro-Ruíz, Miguel Parra-Martínez, Daniel N. Mitroi, Rafael Luján, José A. Esteban, María Dolores Ledesma   +9 more
doaj   +1 more source

Global Proteomics for Identifying the Alteration Pathway of Niemann-Pick Disease Type C Using Hepatic Cell Models. [PDF]

Int J Mol Sci, 2023
Miyoshi K, Hishinuma E, Matsukawa N, Shirasago Y, Watanabe M, Sato T, Sato Y, Kumondai M, Kikuchi M, Koshiba S, Fukasawa M, Maekawa M, Mano N.   +12 more
europepmc   +1 more source

Niemann-Pick Disease Type C (NPDC) by Mutation of NPC1 and NPC2: Aberrant Lysosomal Cholesterol Trafficking and Oxidative Stress. [PDF]

Antioxidants (Basel), 2023
Lee D, Hong JH.
europepmc   +1 more source

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine. [PDF]

NPJ Genom Med, 2023
Las Heras M, Szenfeld B, Ballout RA, Buratti E, Zanlungo S, Dardis A, Klein AD.   +6 more
europepmc   +1 more source

Spectrum of Movement Disorders in Niemann-Pick Disease Type C. [PDF]

Tremor Other Hyperkinet Mov (N Y), 2022
Devaraj R, Mahale RR, Sindhu DM, Stezin A, Kamble N, Holla VV, Netravathi M, Yadav R, Pal PK.   +8 more
europepmc   +1 more source

Loss of Flot2 expression in deep cerebellar nuclei neurons of mice with Niemann-Pick disease type C. [PDF]

Heliyon, 2023
Chen TI, Hsu PC, Lee NC, Liu YH, Wang HC, Lu YH, Chien YH, Hwu WL.   +7 more
europepmc   +1 more source

Dysregulation of Extracellular Vesicle Concentration, MicroRNAs, and Surface Proteins in Patients With Niemann-Pick Disease Type C. [PDF]

J Extracell Biol
Hawthorne SCB, Sandau US, McFarland TJ, Berry-Kravis E, Saugstad JA.   +4 more
europepmc   +1 more source

Pediatric hepatocellular carcinoma associated with Niemann-Pick disease type C: Case report and literature review. [PDF]

JIMD Rep, 2023
Hwang S, Choi Y, Lee BH, Choi JH, Kim JH, Yoo HW.   +5 more
europepmc   +1 more source

A whole-brain structural connectivity signature in adult Niemann-Pick disease type C. [PDF]

Brain Commun
Reilly TC, Di Biase MA, Mansour S, Seguin C, Cropley VL, Velakoulis D, Zalesky A, Pantelis C, Walterfang M.   +8 more
europepmc   +1 more source

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study. [PDF]

Orphanet J Rare Dis, 2023
Freihuber C, Dahmani-Rabehi B, Brassier A, Broué P, Cances C, Chabrol B, Eyer D, Labarthe F, Latour P, Levade T, Pichard S, Sevin C, Vanier MT, Héron B.   +13 more
europepmc   +1 more source