Varaico: Literature-Extracted Genetic Variants

Gene:ANG
Variant:p.P112L
Back to variants list

ANG

NM_001097577.3:p.P112L

Associated Papers

Effects of Pathogenic Mutants of the Neuroprotective RNase 5-Angiogenin in Amyotrophic Lateral Sclerosis (ALS).

Gotte G

Genes, 2024

A Neglected Gene: The Role of the ANG Gene in the Pathogenesis of Amyotrophic Lateral Sclerosis.

Zhang Y et al.

Aging and Disease, 2024

Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.

Körber V et al.

Nature Genetics, 2023

36973454 (PubMed )
Supplement: 41588_2023_1332_MOESM4_ESM.xlsx › Supplementary_Table_7

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Destination Amyotrophic Lateral Sclerosis.

Keon M et al.

Frontiers in Neurology, 2021

33854469 (PubMed )
Supplement: Table_1.XLSX › Genes

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Rare Angiogenin and Ribonuclease 4 variants associated with amyotrophic lateral sclerosis exhibit loss-of-function: a comprehensive in silico study.

Padhi AK et al.

Metabolic Brain Disease, 2019

Angiogenin mutations in Hungarian patients with amyotrophic lateral sclerosis: Clinical, genetic, computational, and functional analyses.

Tripolszki K et al.

Brain and Behavior, 2019

Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target.

Jo M et al.

Genome Research, 2017

Structural insights into human angiogenin variants implicated in Parkinson's disease and Amyotrophic Lateral Sclerosis.

Bradshaw WJ et al.

Scientific Reports, 2017

Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation.

Kirby J et al.

Neuropathology and Applied Neurobiology, 2013

Fast prediction of deleterious angiogenin mutations causing amyotrophic lateral sclerosis.

Padhi AK et al.

Febs Letters, 2013

Prediction of functional loss of human angiogenin mutants associated with ALS by molecular dynamics simulations.

Padhi AK et al.

Scientific Reports, 2013

ANGDelMut - a web-based tool for predicting and analyzing functional loss mechanisms of amyotrophic lateral sclerosis-associated angiogenin mutations.

Padhi AK et al.

F1000research, 2013

Identification of a novel missense mutation in angiogenin in a Chinese amyotrophic lateral sclerosis cohort.

Zou ZY et al.

Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2012

Mechanisms of loss of functions of human angiogenin variants implicated in amyotrophic lateral sclerosis.

Padhi AK et al.

Plos One, 2012

Structural and molecular insights into the mechanism of action of human angiogenin-ALS variants in neurons.

Thiyagarajan N et al.

Nature Communications, 2012

Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation.

Seilhean D et al.

Acta Neuropathologica, 2009

Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis.

Fernández-Santiago R et al.

Journal of Neurology, 2009

Targeting angiogenin in therapy of amyotropic lateral sclerosis.

Kishikawa H et al.

Expert Opinion on Therapeutic Targets, 2008

Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis.

Wu D et al.

Annals of Neurology, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."