Varaico: Literature-Extracted Genetic Variants

Gene:RAB5A
Variant:p.Q79L
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RAB5A

NM_004162.5:p.Q79L

Associated Papers

The Cell Polarity Protein Scribble Is Involved in Maintaining the Structure of Neuromuscular Junctions, the Expression of Myosin Heavy Chain Genes, and Endocytic Recycling in Adult Skeletal Muscle Fibers.

Gessler L et al.

Cells, 2025

TBCK syndrome pathogenesis: the TBCK-PPP1R21-C12orf4 complex regulating RAB5-dependent endo-lysosomal homeostasis.

Wang Y et al.

Science Bulletin, 2025

Endolysosomal dysfunction impairs proteostasis and induces neurodegeneration in vivo.

Shao W et al.

Iscience, 2025

Hyperactivation of RAB5 disrupts the endosomal Rab cascade leading to endolysosomal dysregulation in Down syndrome: A necessary role for increased APP gene dose.

Chen XQ et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

Presenilins as hub proteins controlling the endocytic and autophagic pathways and small extracellular vesicle secretion.

Lauritzen I et al.

Journal of Extracellular Vesicles, 2025

PTPN23-dependent ESCRT machinery functions as a cell death checkpoint.

Song D et al.

Nature Communications, 2024

39609437 (PubMed )
Supplement: 41467_2024_54749_MOESM9_ESM.pdf

HPIP and RUFY3 are noncanonical guanine nucleotide exchange factors of Rab5 to regulate endocytosis-coupled focal adhesion turnover.

Khumukcham SS et al.

The Journal of Biological Chemistry, 2023

ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity.

Meng T et al.

Molecular Psychiatry, 2023

36604604 (PubMed )
Supplement: 41380_2022_1940_MOESM2_ESM.docx

Intercellular transfer of activated STING triggered by RAB22A-mediated non-canonical autophagy promotes antitumor immunity.

Gao Y et al.

Cell Research, 2022

ALFY localizes to early endosomes and cellular protrusions to facilitate directional cell migration.

Søreng K et al.

Journal of Cell Science, 2022

Phosphatase Shp2 regulates biogenesis of small extracellular vesicles by dephosphorylating Syntenin.

Zhang Y et al.

Journal of Extracellular Vesicles, 2021

A High-Affinity Peptide Ligand Targeting Syntenin Inhibits Glioblastoma.

Haugaard-Kedström LM et al.

Journal of Medicinal Chemistry, 2021

RAB31 marks and controls an ESCRT-independent exosome pathway.

Wei D et al.

Cell Research, 2021

Autism Spectrum Disorder Risk Factor Met Regulates the Organization of Inhibitory Synapses.

Jeckel P et al.

Frontiers in Molecular Neuroscience, 2021

AP-2 reduces amyloidogenesis by promoting BACE1 trafficking and degradation in neurons.

Bera S et al.

Embo Reports, 2020

Cdc48/VCP and Endocytosis Regulate TDP-43 and FUS Toxicity and Turnover.

Liu G et al.

Molecular and Cellular Biology, 2020

Endocytic sorting and downregulation of the M2 acetylcholine receptor is regulated by ubiquitin and the ESCRT complex.

Zenko D et al.

Neuropharmacology, 2020

EIPR1 controls dense-core vesicle cargo retention and EARP complex localization in insulin-secreting cells.

Topalidou I et al.

Molecular Biology of the Cell, 2020

Protein folding state-dependent sorting at the Golgi apparatus.

Hellerschmied D et al.

Molecular Biology of the Cell, 2019

Modulation of calreticulin expression reveals a novel exosome-mediated mechanism of Z variant α1-antitrypsin disposal.

Khodayari N et al.

The Journal of Biological Chemistry, 2019

A single discrete Rab5-binding site in phosphoinositide 3-kinase β is required for tumor cell invasion.

Heitz SD et al.

The Journal of Biological Chemistry, 2019

ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.

Vantaggiato C et al.

Autophagy, 2019

TFEB-driven endocytosis coordinates MTORC1 signaling and autophagy.

Nnah IC et al.

Autophagy, 2019

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.

Hermle T et al.

Journal of the American Society of Nephrology : Jasn, 2018

NRBF2 is involved in the autophagic degradation process of APP-CTFs in Alzheimer disease models.

Yang C et al.

Autophagy, 2017

Moesin and cortactin control actin-dependent multivesicular endosome biogenesis.

Muriel O et al.

Molecular Biology of the Cell, 2016

Structure-function relationship of the small GTPase rab5.

Li G et al.

The Journal of Biological Chemistry, 1993

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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."