Results 161 to 170 of about 13,156 (213)

Enzyme Activity-Based Genome-wide Screening for Modifiers of Lysosomal Glucocerebrosidase Uncovers Candidate Risk Factors for Parkinson's Disease. [PDF]

ACS Cent Sci
Udayar V, Gilormini PA, Bryois J, Gehrlein A, Chen X, Sonea S, Zhu S, Deen MC, Anastasi N, Murphy AE, Skene N, Tan MMX, Tunold JA, Roudnicky F, van de Berg WDJ, Pihlstrøm L, Vocadlo DJ, Jagasia R.   +17 more
europepmc   +1 more source

Heterozygosity in NPC may be associated with neurologic and systemic phenotypes. [PDF]

Front Neurol
Brémovà-Ertl T, Tahirovic S, Katušić Hećimović S, Martakis K, Rohrbach M, Gautschi M, Dhamija R, Ganesh J, Peters M, Walterfang M, Schneider SA.   +10 more
europepmc   +1 more source

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker [PDF]

, 2014
Al Eisa, Nada, Cousins, Alison, et al.,, Hartung, Ralf, Hendriksz, Christian J, Jiang, Xuntian, Lachmann, Robin H, Mengel, Eugen, Ory, Daniel S, Sidhu, Rohini, Simmons, Louise, Smith, David A, Speak, Anneliese O, te Vruchte, Danielle, Wallom, Kerri L   +14 more
core   +1 more source

Whole-Genome Resequencing Analysis Reveals Insights into Sex Determination and Gene Loci Associated with Sex Differences in Procambarus clarkii. [PDF]

Int J Mol Sci
Li J, Chen Y, Wang Y, Liu S.
europepmc   +1 more source

Abstract 2785 Mapping the TMEM97-NPC1 interface

Journal of Biological Chemistry
Ha Nguyen, Yu-Shiuan Cheng, Alison Ondrus   +2 more
openaire   +1 more source

Real-time monitoring of secretory protein traffic for investigating trafficking regulators of ACE2 in living cells. [PDF]

J Biol Chem
Zhang C, Yang M, An Y, Liu M, Li H, Zhao R, Yang X, Huang L, Zhang Y, Peng R, Zhong H, Yan X, Wei C, Wan L.   +13 more
europepmc   +1 more source

Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1. [PDF]

Genet Med Open
Cawley NX, Zhou R, Mylvara A, Padilla CJ, Alexander D, Farhat N, Alvarez C, Cougnoux A, Berry-Kravis E, Cologna SM, Liu F, Porter FD.   +11 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

Advances in mass spectrometry of lipids for the investigation of Niemann-pick type C disease. [PDF]

Lipids Health Dis
Javanshad R, Li W, Pathmasiri KC, Cologna SM.   +3 more
europepmc   +1 more source

Bmal1 is involved in the regulation of macrophage cholesterol homeostasis. [PDF]

JCI Insight
Pan X, O'Hare J, Mowdawalla C, Mota S, Wang N, Hussain MM.   +5 more
europepmc   +1 more source