Results 121 to 130 of about 7,315 (135)

Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

Journal of Clinical Medicine, 2020
Andrea Dardis, Serena Gasperini, Maja Di Rocco   +2 more
exaly  

Molecular dynamics simulations reveal structural differences among wild-type NPC1 protein and its mutant forms

Journal of Biomolecular Structure and Dynamics, 2020
Sarita Montaño, José Correa-Basurto, Marlet Martínez-Archundia   +2 more
exaly  

Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1†

Human Mutation, 2003
Walter Park, Marc C. Patterson, Pamela S Karnes   +2 more
exaly  

The NPC1 protein: structure implies function

Biochimica Et Biophysica Acta - Molecular and Cell Biology of Lipids, 2004
Y A Ioannou
exaly  

Niemann-Pick C1 (NPC1)/NPC1-like1 Chimeras Define Sequences Critical for NPC1’s Function as a Filovirus Entry Receptor

Viruses, 2012
Emily S Miller, John M Dye, Esther Ndungo   +2 more
exaly  

NPC1 enables cholesterol mobilization during long‐term potentiation that can be restored in Niemann–Pick disease type C by CYP46A1 activation

EMBO Reports, 2019
Daniel N Mitroi, José A Esteban, Toshihide Kobayashi   +2 more
exaly  

Single-Nucleotide Polymorphisms in Human NPC1 Influence Filovirus Entry Into Cells

Journal of Infectious Diseases, 2018
Rashid Manzoor, Heinz Feldmann, Tatsunari Kondoh   +2 more
exaly  

Mutations in NPC1 Highlight a Conserved NPC1-Specific Cysteine-Rich Domain

American Journal of Human Genetics, 1999
Melanie Dobson, D M Byers, W L Greer
exaly  

Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1

Proteomics, 2016
Josep Maria Estanyol, Carmen Aguado, Erwin Knecht   +2 more
exaly  

Improvement of impaired electrical activity in NPC1 mutant cortical neurons upon DHPG stimulation detected by micro-electrode array

Brain Research, 2018
Jiankai Luo
exaly