Results 131 to 140 of about 24,478,248 (209)

Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease. [PDF]

JCI Insight, 2022
Schultz ML, Schache KJ, Azaria RD, Kuiper EQ, Erwood S, Ivakine EA, Farhat NY, Porter FD, Pathmasiri KC, Cologna SM, Uhler MD, Lieberman AP.   +11 more
europepmc   +1 more source

Clinical, genotypic, and neuropsychological profile in a series of patients with Niemann-Pick type C disease. [PDF]

Front Neurol
Dos Santos Mendes R, do Valle DA, Dos Santos Bara T, Furlin V, da Silva Zeny M, Schmitz Ferreira Santos ML, Cordeiro ML.   +6 more
europepmc   +1 more source

NPC1-dependent alterations in K_V2.1-Ca_V1.2 nanodomains drive neuronal death in models of Niemann-Pick Type C disease. [PDF]

Nat Commun, 2023
Casas M, Murray KD, Hino K, Vierra NC, Simó S, Trimmer JS, Dixon RE, Dickson EJ.   +7 more
europepmc   +1 more source

Short-lived Niemann-Pick type C mice with accelerated brain aging as a novel model for Alzheimer's disease research. [PDF]

Neural Regen Res
Gujjala VA, Abyadeh M, Klimek I, Tyshkovskiy A, Oz N, Castro JP, Gladyshev VN, Newton J, Kaya A.   +8 more
europepmc   +1 more source

Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment. [PDF]

Medicine (Baltimore), 2022
Gascón-Bayarri J, Simon PC, Llop R, Carnaval T, Ledesma MD, Rico I, Sánchez-Castañeda C, Campdelacreu-Fumadó J, Calvo-Malvar N, Cos M, de Lama E, Cortés-Romera M, Rodríguez-Bel L, Pérez-Sousa C, Cerdán Sánchez M, Muelas N, Sevillano MD, Mir P, López de Munain A, Ferrer A, Videla S.   +20 more
europepmc   +1 more source

Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease. [PDF]

Int J Mol Sci
David H, Monfregola J, Ribeiro I, Cardoso MT, Sandiares AC, Moreira L, Coutinho MF, Quelhas D, Ballabio A, Alves S, Encarnação M.   +10 more
europepmc   +1 more source

Repurposing Dipyridamole in Niemann Pick Type C Disease: A Proof of Concept Study. [PDF]

Int J Mol Sci, 2022
Pepponi R, De Simone R, De Nuccio C, Visentin S, Matteucci A, Bernardo A, Popoli P, Ferrante A.   +7 more
europepmc   +1 more source

Correction: Reporting preclinical gene therapy studies in the field of Niemann-Pick type C disease according to the ARRIVE guidelines. [PDF]

Orphanet J Rare Dis
Rasmussen CLM, Burkhart A, Moos T, Thomsen LB.   +3 more
europepmc   +1 more source

Niemann-Pick Type C Proteins Are Required for Sterol Transport and Appressorium-Mediated Plant Penetration of Colletotrichum orbiculare. [PDF]

mBio, 2022
Kodama S, Kajikawa N, Fukada F, Kubo Y.
europepmc   +1 more source

Accumulation of TMEM106B C-terminal fragments in Niemann-Pick type C disease. [PDF]

J Neuropathol Exp Neurol
Azaria RD, Ferris SP, Tashjian RS, Perneel J, Van den Broeck M, Mackenzie IR, Berry-Kravis E, Rademakers R, Lieberman AP.   +8 more
europepmc   +1 more source