Results 141 to 150 of about 25,072 (275)

Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop [PDF]

, 2001
Gilles Millat, Christophe Marçais, Catherine Tomasetto, Karim Chikh, Anthony H. Fensom, K. Harzer, David A. Wenger, Kinji Ohno, Marie T. Vanier   +8 more
openalex   +1 more source

ARPE-19-A Stable Cell Line Expressing a Variant of Unknown Significance in the <i>NPC1</i> Gene. [PDF]

Genes (Basel)
Monteiro B, Peixoto MI, Ortigoza-Escobar JD, Alves M, Sandiares AC, Gonçalves M, Moreira LV, Coutinho MF, Matos L, Alves S, Encarnação M.   +10 more
europepmc   +1 more source

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease [PDF]

, 2018
et al,, Jiang, Xuntian, Ory, Daniel S
core   +1 more source

Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency-results from an international survey study. [PDF]

Orphanet J Rare Dis
Morsy AS, Mbua S, Mathieson T, Hopkin J, Bolton S.   +4 more
europepmc   +1 more source

Identification and Expression of a Missense Mutation (Y446C) in the Acid Sphingomyelinase Gene from a Japanese Patient with Type A Niemann-Pick Disease.

, 1995
Tsutomu Takahashi, Mariko Suchi, Wataru Sato, Svetlana Ten, Norio Sakuragawa, Robert J. Desnick, Edward H. Schuchman, Goro Takada   +7 more
openalex   +2 more sources

Effects of lipid-lowering drugs on epilepsy and its subtypes: A drug-target Mendelian randomization study. [PDF]

Medicine (Baltimore)
Wang Y, Huang S.
europepmc   +1 more source

Abstract 1502: Misrouting of Niemann-Pick C1 protein mediates cholesterol induced mTORC1-activation contributing to pathogenesis of CLN1-disease

, 2023
Abhilash P. Appu, Maria B. Bagh, Nisha Plavelil, Avisek Mondal, Tamal Sadhukhan, Aiyi Liu, Anil B. Mukherjee   +6 more
openalex   +1 more source

Experimental neurotransplantation treatment for hereditary cerebellar ataxias [PDF]

, 2016
Jan Cendelin
core   +1 more source

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine. [PDF]

Orphanet J Rare Dis
Sheth J, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Datar C, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Prabha CR, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia-Mahay S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Kabra M, Jalan A, Solanki D, Dalal A, Sheth F, Sheth H.   +37 more
europepmc   +1 more source

Pathophysiology of Niemann-Pick disease type C: Study of the potential interaction between NPC1, PMCA2 and ABCC3 proteins

, 2019
Sofia Alexandra Pardal Perdigão
openalex   +1 more source