Varaico: Literature-Extracted Genetic Variants

Gene:ATL3
Variant:p.P338R
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ATL3

NM_015459.5:p.P338R

Associated Papers

Connecting tubules: mechanisms of endoplasmic reticulum membrane fusion.

Jang E et al.

Biochemical Society Transactions, 2025

Regulation and function of endoplasmic reticulum autophagy in neurodegenerative diseases.

Zhao XY et al.

Neural Regeneration Research, 2025

A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness.

Mohammadi S et al.

Annals of Human Genetics, 2023

The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy.

Pyromali I et al.

Biomedicines, 2023

Disease-causing mutated ATLASTIN 3 is excluded from distal axons and reduces axonal autophagy.

Behrendt L et al.

Neurobiology of Disease, 2021

ER-Phagy: A New Regulator of ER Homeostasis.

Yang M et al.

Frontiers in Cell and Developmental Biology, 2021

ATL3, a cargo receptor for reticulophagy.

Chen Q et al.

Autophagy, 2019

A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways.

Behrendt L et al.

Cellular and Molecular Life Sciences : Cmls, 2019

ATL3 Is a Tubular ER-Phagy Receptor for GABARAP-Mediated Selective Autophagy.

Chen Q et al.

Current Biology : Cb, 2019

ATL3 gene mutation in a Chinese family with hereditary sensory neuropathy type 1F.

Xu H et al.

Journal of the Peripheral Nervous System : Jpns, 2019

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.

Krols M et al.

Human Molecular Genetics, 2019

Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.

Krols M et al.

Cell Reports, 2018

A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.

Fischer D et al.

Brain : a Journal of Neurology, 2014

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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."