PMC Links for OMIM (Select 617074) - PMC

Select item 80544791.

Structure of the C9orf72 Arf GAP complex haploinsufficient in ALS and FTD

Ming-Yuan Su, Simon A. Fromm, Roberto Zoncu, James H. Hurley

Nature. Author manuscript; available in PMC 2021 Apr 19.

Published in final edited form as: Nature. 2020 Sep; 585(7824): 251–255. Published online 2020 Aug 26. doi: 10.1038/s41586-020-2633-x

PMCID:: PMC8054479

Abstract Article PDF–5.2M

Select item 72821952.

Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS/FTD mouse models

Chen Liang, Qiang Shao, Wei Zhang, Mei Yang, Qing Chang, Rong Chen, Jian-Fu Chen

Hum Mol Genet. 2019 Dec 1; 28(23): 3940–3953. Published online 2019 Oct 18. doi: 10.1093/hmg/ddz230

Correction in:: Hum Mol Genet. 2020 Apr 15; 29(6): 1056.

PMCID:: PMC7282195

Abstract Article PDF–2.5M

Select item 53230463.

Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator

Jennifer Jung, Arnab Nayak, Véronique Schaeffer, Tatjana Starzetz, Achim K Kirsch, Stefan Müller, Ivan Dikic, Michel Mittelbronn, Christian Behrends

eLife. 2017; 6: e23063. Published online 2017 Feb 14. doi: 10.7554/eLife.23063

PMCID:: PMC5323046

Abstract Article PDF–5.8M

Select item 50636134.

C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling

Joseph Amick, Agnes Roczniak-Ferguson, Shawn M. Ferguson

Mol Biol Cell. 2016 Oct 15; 27(20): 3040–3051. doi: 10.1091/mbc.E16-01-0003

PMCID:: PMC5063613

Abstract Article PDF–3.2M

Select item 50103695.

A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy

Mei Yang, Chen Liang, Kunchithapadam Swaminathan, Stephanie Herrlinger, Fan Lai, Ramin Shiekhattar, Jian-Fu Chen

Sci Adv. 2016 Sep; 2(9): e1601167. Published online 2016 Sep 2. doi: 10.1126/sciadv.1601167

PMCID:: PMC5010369

Abstract Article PDF–11M

Select item 49105336.

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

Chantal Sellier, Maria‐Letizia Campanari, Camille Julie Corbier, Angeline Gaucherot, Isabelle Kolb‐Cheynel, Mustapha Oulad‐Abdelghani, Frank Ruffenach, Adeline Page, Sorana Ciura, Edor Kabashi, Nicolas Charlet‐Berguerand

EMBO J. 2016 Jun 15; 35(12): 1276–1297. Published online 2016 Apr 21. doi: 10.15252/embj.201593350

PMCID:: PMC4910533

Abstract Article PDF–1.5M

Select item 48708127.

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

Peter M. Sullivan, Xiaolai Zhou, Adam M. Robins, Daniel H. Paushter, Dongsung Kim, Marcus B. Smolka, Fenghua Hu

Acta Neuropathol Commun. 2016; 4: 51. Published online 2016 May 18. doi: 10.1186/s40478-016-0324-5

PMCID:: PMC4870812

Abstract Article PDF–5.1M

Select item 1865948.

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

Weimin Bi, Jiong Yan, Paweł Stankiewicz, Sung-Sup Park, Katherina Walz, Cornelius F. Boerkoel, Lorraine Potocki, Lisa G. Shaffer, Koen Devriendt, Małgorzata J.M. Nowaczyk, Ken Inoue, James R. Lupski

Genome Res. 2002 May; 12(5): 713–728. doi: 10.1101/gr.73702

PMCID:: PMC186594

Abstract Article PDF–611K

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