Concepedia

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

Julia Wang, Justine Rousseau, Emily Kim, Sophie Ehresmann, Yi-Ting Cheng, Lita Duraine, Zhongyuan Zuo, Ye-Jin Park, David Li‐Kroeger, Weimin Bi,

The American Journal of Human Genetics · 2019 · 72 citations · 85 references

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85

The Genotype-Tissue Expression (GTEx) project.

PubMed · 2013 · 10K citations · Full text

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Induction of the Vitamin D Receptor Attenuates Autophagy Dysfunction-Mediated Cell Death Following Traumatic Brain Injury.

Changmeng Cui, Jianzhong Cui, Feng Jin et al. · PubMed · 2017 · 5.2K citations

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p62/SQSTM1 Binds Directly to Atg8/LC3 to Facilitate Degradation of Ubiquitinated Protein Aggregates by Autophagy

Serhiy Pankiv, Terje Høyvarde Clausen, Trond Lamark et al. · Journal of Biological Chemistry · 2007 · 4.5K citations · Full text

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CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch, Daniela Witten, Gregory M. Cooper et al. · Nucleic Acids Research · 2018 · 3.9K citations · Full text

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20 years of the SMART protein domain annotation resource

Ivica Letunić, Peer Bork · Nucleic Acids Research · 2017 · 2.2K citations · Full text

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