PMC Links for Nucleotide (Select 1519313573) - PMC

Result Filters

Links from Nucleotide

Items: 7

Select item 63984861.

VPS13A is closely associated with mitochondria and is required for efficient lysosomal degradation

Sandra Muñoz-Braceras, Alba R. Tornero-Écija, Olivier Vincent, Ricardo Escalante

Dis Model Mech. 2019 Feb 1; 12(2): dmm036681. Published online 2019 Feb 22. doi: 10.1242/dmm.036681

PMCID:: PMC6398486

Abstract Article

Select item 61682672.

VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites

Nikit Kumar, Marianna Leonzino, William Hancock-Cerutti, Florian A. Horenkamp, PeiQi Li, Joshua A. Lees, Heather Wheeler, Karin M. Reinisch, Pietro De Camilli

J Cell Biol. 2018 Oct 1; 217(10): 3625–3639. doi: 10.1083/jcb.201807019

PMCID:: PMC6168267

Abstract Article PDF–2.7M

Select item 53931513.

Amino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate

Weronika Rzepnikowska, Krzysztof Flis, Joanna Kaminska, Marcin Grynberg, Agnieszka Urbanek, Kathryn R. Ayscough, Teresa Zoladek

Hum Mol Genet. 2017 Apr 15; 26(8): 1497–1510. Published online 2017 Mar 1. doi: 10.1093/hmg/ddx054

PMCID:: PMC5393151

Abstract Article PDF–944K

Select item 17159774.

Chorea-acanthocytosis: genetic linkage to chromosome 9q21.

J P Rubio, A Danek, C Stone, R Chalmers, N Wood, C Verellen, X Ferrer, A Malandrini, G M Fabrizi, M Manfredi, J Vance, M Pericak-Vance, R Brown, G Rudolf, F Picard, E Alonso, M Brin, A H Németh, M Farrall, A P Monaco

Am J Hum Genet. 1997 Oct; 61(4): 899–908. doi: 10.1086/514876

PMCID:: PMC1715977

Summary Page Browse PDF–1.9M

Select item 53887355.

Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review

Yan Shen, Xiaoming Liu, Xi Long, Chao Han, Fang Wan, Wenliang Fan, Xingfang Guo, Kai Ma, Shiyi Guo, Luxi Wang, Yun Xia, Ling Liu, Jinsha Huang, Zhicheng Lin, Nian Xiong, Tao Wang

Front Aging Neurosci. 2017; 9: 95. Published online 2017 Apr 12. doi: 10.3389/fnagi.2017.00095

PMCID:: PMC5388735

Abstract Article PDF–2.5M

Select item 52491416.

Drosophila Vps13 Is Required for Protein Homeostasis in the Brain

Jan J. Vonk, Wondwossen M. Yeshaw, Francesco Pinto, Anita I. E. Faber, Liza L. Lahaye, Bart Kanon, Marianne van der Zwaag, Antonio Velayos-Baeza, Raimundo Freire, Sven C. van IJzendoorn, Nicola A. Grzeschik, Ody C. M. Sibon

PLoS One. 2017; 12(1): e0170106. Published online 2017 Jan 20. doi: 10.1371/journal.pone.0170106