Varaico: Literature-Extracted Genetic Variants

Gene:RAB7A
Variant:p.Q67L
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RAB7A

NM_004637.6:p.Q67L

Associated Papers

BLTP3A is associated with membranes of the late endocytic pathway and is an effector of CASM.

Hanna MG et al.

The Embo Journal, 2025

Cryo-EM structure of the human MON1A-CCZ1-RAB7A complex provides insights into nucleotide exchange mechanism.

Li X et al.

Life Metabolism, 2025

Mechanistic insights into the GEF activity of the human MON1A/CCZ1/C18orf8 complex.

Tang Y et al.

Protein & Cell, 2025

Evidence for Rab7b and Its Splice Isoforms Having Distinct Biological Functions from Rab7a.

Wong WH et al.

International Journal of Molecular Sciences, 2025

The multiple facets of Rab proteins modulating the cellular distribution of cholesterol from the late endosomal compartment.

Nguyen MKL et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2025

GORASP2 promotes phagophore closure and autophagosome maturation into autolysosomes.

Xing Y et al.

Autophagy, 2025

Assembly and fission of tubular carriers mediating protein sorting in endosomes.

Gopaldass N et al.

Nature Reviews. Molecular Cell Biology, 2024

Germline stem cell integrity and quiescence are controlled by an AMPK-dependent neuronal trafficking pathway.

Wong C et al.

Plos Genetics, 2023

GTPase-activating protein TBC1D5 coordinates with retromer to constrain synaptic growth by inhibiting BMP signaling.

Zhou X et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2023

Mid51/Fis1 mitochondrial oligomerization complex drives lysosomal untethering and network dynamics.

Wong YC et al.

The Journal of Cell Biology, 2022

Membrane Targeting and GTPase Activity of Rab7 Are Required for Its Ubiquitination by RNF167.

Ghilarducci K et al.

International Journal of Molecular Sciences, 2022

The PripA-TbcrA complex-centered Rab GAP cascade facilitates macropinosome maturation in Dictyostelium.

Tu H et al.

Nature Communications, 2022

C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy.

Yan BR et al.

Autophagy, 2022

NRBF2 is a RAB7 effector required for autophagosome maturation and mediates the association of APP-CTFs with active form of RAB7 for degradation.

Cai CZ et al.

Autophagy, 2021

Deciphering the LRRK code: LRRK1 and LRRK2 phosphorylate distinct Rab proteins and are regulated by diverse mechanisms.

Malik AU et al.

The Biochemical Journal, 2021

TGFβ signalling acts as a molecular brake of myoblast fusion.

Melendez J et al.

Nature Communications, 2021

The retromer CSC subcomplex is recruited by MoYpt7 and sequentially sorted by MoVps17 for effective conidiation and pathogenicity of the rice blast fungus.

Wu C et al.

Molecular Plant Pathology, 2021

PDZD8 interacts with Protrudin and Rab7 at ER-late endosome membrane contact sites associated with mitochondria.

Elbaz-Alon Y et al.

Nature Communications, 2020

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Distinct Roles for RAB10 and RAB29 in Pathogenic LRRK2-Mediated Endolysosomal Trafficking Alterations.

Rivero-Ríos P et al.

Cells, 2020

TMEM16K is an interorganelle regulator of endosomal sorting.

Petkovic M et al.

Nature Communications, 2020

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.

Saveri P et al.

Cells, 2020

IFNB/interferon-β regulates autophagy via a MIR1-TBC1D15-RAB7 pathway.

Ejlerskov P et al.

Autophagy, 2020

Control of Rab7a activity and localization through endosomal type Igamma PIP 5-kinase is required for endosome maturation and lysosome function.

Sun M et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

Rab7 regulates primary cilia disassembly through cilia excision.

Wang G et al.

The Journal of Cell Biology, 2019

Retromer and TBC1D5 maintain late endosomal RAB7 domains to enable amino acid-induced mTORC1 signaling.

Kvainickas A et al.

The Journal of Cell Biology, 2019

Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2.

Wong YC et al.

Developmental Cell, 2019

Regulation and Function of Mitochondria-Lysosome Membrane Contact Sites in Cellular Homeostasis.

Wong YC et al.

Trends in Cell Biology, 2019

Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility.

Yeshaw WM et al.

Elife, 2019

Late Endosomes Act as mRNA Translation Platforms and Sustain Mitochondria in Axons.

Cioni JM et al.

Cell, 2019

Mitochondria-lysosome contacts regulate mitochondrial fission via RAB7 GTP hydrolysis.

Wong YC et al.

Nature, 2018

Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B.

Colecchia D et al.

Autophagy, 2018

TUFT1 interacts with RABGAP1 and regulates mTORC1 signaling.

Kawasaki N et al.

Cell Discovery, 2018

RAB7L1-Mediated Relocalization of LRRK2 to the Golgi Complex Causes Centrosomal Deficits via RAB8A.

Madero-Pérez J et al.

Frontiers in Molecular Neuroscience, 2018

Negative regulation of EGFR signalling by the human folliculin tumour suppressor protein.

Laviolette LA et al.

Nature Communications, 2017

Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?

Liu H et al.

International Journal of Molecular Sciences, 2017

Iron overload causes endolysosomal deficits modulated by NAADP-regulated 2-pore channels and RAB7A.

Fernández B et al.

Autophagy, 2016

FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.

Bharadwaj R et al.

Human Molecular Genetics, 2016

Charcot-Marie-Tooth 2b associated Rab7 mutations cause axon growth and guidance defects during vertebrate sensory neuron development.

Ponomareva OY et al.

Neural Development, 2016

Network analyses reveal novel aspects of ALS pathogenesis.

Sanhueza M et al.

Plos Genetics, 2015

Protein kinase LKB1 promotes RAB7-mediated neuropilin-1 degradation to inhibit angiogenesis.

Okon IS et al.

The Journal of Clinical Investigation, 2014

Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila.

Janssens K et al.

Neurobiology of Disease, 2014

Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease.

Beilina A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function.

Cherry S et al.

Elife, 2013

Vimentin phosphorylation and assembly are regulated by the small GTPase Rab7a.

Cogli L et al.

Biochimica Et Biophysica Acta, 2013

Defective axonal transport of Rab7 GTPase results in dysregulated trophic signaling.

Zhang K et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013

Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.

Cogli L et al.

Acta Neuropathologica, 2013

Identification of Alzheimer disease-associated variants in genes that regulate retromer function.

Vardarajan BN et al.

Neurobiology of Aging, 2012

Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling.

BasuRay S et al.

Plos One, 2010

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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."