Varaico: Literature-Extracted Genetic Variants

Gene:ATL3
Variant:p.Y192C
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ATL3

NM_015459.5:p.Y192C

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

Autophagy in major human diseases.

Klionsky DJ et al.

The Embo Journal, 2021

Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.

Cintra VP et al.

Journal of the Neurological Sciences, 2021

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

Behrendt L et al.

Neurobiology of Disease, 2021

The Complex Clinical and Genetic Landscape of Hereditary Peripheral Neuropathy.

Ghosh S et al.

Annual Review of Pathology, 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

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

Kornak U 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."