Results 141 to 150 of about 16,701 (225)

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

TMEM259/MEMBRALIN is a non-canonical ER-phagy receptor that associates with MAN1B1 and VCP to eliminate viral glycoproteins. [PDF]

Autophagy Rep
Camilleri JM, Zhang J, Wang T, Ahmad I, Li S, Zheng YH.   +5 more
europepmc   +1 more source

Transport of sphingolipids by yeast Npc2 supports phase separation of the vacuole membrane. [PDF]

J Biol Chem
Kim H, Lipp NF, Juarez-Contreras I, Wong AM, Budin I.   +4 more
europepmc   +1 more source

Mendelian randomization analysis of lipid-lowering drug targets and neuropsychiatric disorders. [PDF]

Medicine (Baltimore)
Peng S, Liu M, Du F, Li K.
europepmc   +1 more source

Genetic Association of Lipids and Lipid-Lowering Drug Target Genes With Atopic Dermatitis: A Drug Target Mendelian Randomization Study. [PDF]

Health Sci Rep
Luo M, Lin J, Zhuo Q, Lin L, Han Y.
europepmc   +1 more source

Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1. [PDF]

Mol Genet Metab
Porter FD, Alexander DM, Albert OK, Robbins KP, Labor DA, Borruso AJ, Farhat NY, Jiang X, Berry-Kravis E.   +8 more
europepmc   +1 more source

Case Report: Interleukin-23 blockade achieves sustained remission in Niemann-Pick type C-associated Crohn's disease refractory to anti-tumor necrosis factor therapy. [PDF]

Front Immunol
Kakiuchi T, Shimada S, Zhang Y, Nomura M, Yoshiura M.   +4 more
europepmc   +1 more source

Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1. [PDF]

Mol Genet Metab
Agrawal N, Bianconi S, Jaeger R, Farhat NY, Alexander DM, Sinaii N, Hadigan C, Berry-Kravis E, Porter FD.   +8 more
europepmc   +1 more source

DRABAL: novel method to mine large high-throughput screening assays using Bayesian active learning [PDF]

, 2016

core   +1 more source

Optimization of systemic AAV9 gene therapy in Niemann-Pick disease, type C1 mice. [PDF]

Life Sci Alliance
Mylvara AV, Gibson AL, Gu T, Davidson CD, Incao AA, Melnyk K, Gembic SR, Pierre-Jacques D, Cologna SM, Venditti CP, Porter FD, Pavan WJ.   +11 more
europepmc   +1 more source