Varaico: Literature-Extracted Genetic Variants

Gene:HERC1
Variant:p.G483E
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HERC1

NM_003922.4:p.G483E

Associated Papers

HERC1 E3 Ubiquitin Ligase Is Necessary for Autophagy Processes and for the Maintenance and Homeostasis of Vesicles in Motor Nerve Terminals, but Not for Proteasomal Activity.

Pérez-Castro MÁ et al.

International Journal of Molecular Sciences, 2025

First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants.

Reshadmanesh A et al.

Archives of Iranian Medicine, 2024

Identification of a quality-control factor that monitors failures during proteasome assembly.

Zavodszky E et al.

Science (new York, N.y.), 2021

The HERC1 ubiquitin ligase regulates presynaptic membrane dynamics of central synapses.

Montes-Fernández MA et al.

Scientific Reports, 2020

HERC1 Ubiquitin Ligase Is Required for Hippocampal Learning and Memory.

Pérez-Villegas EM et al.

Frontiers in Neuroanatomy, 2020

HERCing: Structural and Functional Relevance of the Large HERC Ubiquitin Ligases.

García-Cano J et al.

Frontiers in Physiology, 2019

HERC1 Ubiquitin Ligase Is Required for Normal Axonal Myelination in the Peripheral Nervous System.

Bachiller S et al.

Molecular Neurobiology, 2018

The E3 ubiquitin ligase HERC1 controls the ERK signaling pathway targeting C-RAF for degradation.

Schneider T et al.

Oncotarget, 2018

Mutation of the HERC 1 Ubiquitin Ligase Impairs Associative Learning in the Lateral Amygdala.

Pérez-Villegas EM et al.

Molecular Neurobiology, 2018

A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.

Aggarwal S et al.

American Journal of Medical Genetics. Part A, 2016

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.

Nguyen LS et al.

European Journal of Human Genetics : Ejhg, 2016

HERC 1 Ubiquitin Ligase Mutation Affects Neocortical, CA3 Hippocampal and Spinal Cord Projection Neurons: An Ultrastructural Study.

Ruiz R et al.

Frontiers in Neuroanatomy, 2016

Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.

Ortega-Recalde O et al.

Clinical Genetics, 2015

The HERC1 E3 Ubiquitin Ligase is essential for normal development and for neurotransmission at the mouse neuromuscular junction.

Bachiller S et al.

Cellular and Molecular Life Sciences : Cmls, 2015

Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase.

Mashimo T et al.

Plos Genetics, 2009

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