Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC13
Variant:p.N855S
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DNAJC13

NM_015268.4:p.N855S

Associated Papers

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 2026

Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.

Lu J et al.

Autophagy, 2026

41277110 (PubMed )
Supplement: KAUP_A_2581217_SM7038.pdf

The Parkinson Disease-Associated Mutant DNAJC13(N855S) Leads to Its Accelerated Degradation and Negatively Affects Macroautophagy and Retromer Complex-Mediated Dynamics.

Stein A et al.

Journal of Cellular Physiology, 2025

Clinical and Genetic Characteristics of Patients with Essential Tremor Who Develop Parkinson's Disease.

Buyukserbetci G et al.

Medicina (kaunas, Lithuania), 2025

Multi-omics machine learning classifier and blood transcriptomic signature of Parkinson's disease.

Dong X et al.

Research Square, 2025

Case Report: Decoding genetic risks of vascular parkinsonism: a case series.

Shalash A et al.

Frontiers in Genetics, 2025

40786864 (PubMed )
Supplement: Table1.xlsx › S.table1

Parkinson's Disease Gene Screening in Familial Cases from Central and South America.

Lorenzo-Betancor O et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

A conserved requirement for RME-8/DNAJC13 in neuronal autophagic lysosome reformation.

Swords SB et al.

Autophagy, 2024

A Conserved Requirement for RME-8/DNAJC13 in Neuronal Autolysosome Reformation.

Swords S et al.

Biorxiv : the Preprint Server for Biology, 2023

The roles of HSP40/DNAJ protein family in neurodegenerative diseases.

He Y et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022

Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.

Jia F et al.

Genes, 2022

Synaptic proteostasis in Parkinson's disease.

Nachman E et al.

Current Opinion in Neurobiology, 2022

Current Status of Next-Generation Sequencing Approaches for Candidate Gene Discovery in Familial Parkinson´s Disease.

Pillay NS et al.

Frontiers in Genetics, 2022

Beware of Misdelivery: Multifaceted Role of Retromer Transport in Neurodegenerative Diseases.

Yoshida S et al.

Frontiers in Aging Neuroscience, 2022

Genetic Analysis of Patients With Early-Onset Parkinson's Disease in Eastern China.

Hua P et al.

Frontiers in Aging Neuroscience, 2022

Genomic Markers for Essential Tremor.

Jiménez-Jiménez FJ et al.

Pharmaceuticals (basel, Switzerland), 2021

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.

Saini P et al.

Neurobiology of Aging, 2021

Receptor-mediated endocytosis 8 (RME-8)/DNAJC13 is a novel positive modulator of autophagy and stabilizes cellular protein homeostasis.

Besemer AS et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Genetics of Parkinson's disease in the Polish population.

Milanowski ŁM et al.

Neurologia I Neurochirurgia Polska, 2021

Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings.

Guadagnolo D et al.

Frontiers in Neurology, 2021

Mutation Analysis of DNAJC Family for Early-Onset Parkinson's Disease in a Chinese Cohort.

Li C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy.

Procopio R et al.

Journal of the Neurological Sciences, 2019

Role of the endolysosomal system in Parkinson's disease.

Vidyadhara DJ et al.

Journal of Neurochemistry, 2019

DNAJC proteins and pathways to parkinsonism.

Roosen DA et al.

The Febs Journal, 2019

DNAJC13 p.Asn855Ser, implicated in familial parkinsonism, alters membrane dynamics of sorting nexin 1.

Follett J et al.

Neuroscience Letters, 2019

TMEM230 variants in Parkinson's disease.

Iqbal Z et al.

Nature Genetics, 2019

Reply to 'TMEM230 variants in Parkinson's disease' and 'Doubts about TMEM230 as a gene for parkinsonism'.

Deng HX et al.

Nature Genetics, 2019

DNAJC13 mutation screening in patients with Parkinson's disease from South Italy.

Gagliardi M et al.

Parkinsonism & Related Disorders, 2018

Parkinson's disease-linked DNAJC13 mutation aggravates alpha-synuclein-induced neurotoxicity through perturbation of endosomal trafficking.

Yoshida S et al.

Human Molecular Genetics, 2018

DNAJ Proteins in neurodegeneration: essential and protective factors.

Zarouchlioti C et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018

Genetics of Parkinson disease.

Domingo A et al.

Handbook of Clinical Neurology, 2018

The Role of TMEM230 Gene in Parkinson's Disease.

Deng H et al.

Journal of Parkinson's Disease, 2018

Lack of TMEM230 mutations in patients with familial and sporadic Parkinson's disease in a Taiwanese population.

Fan TS et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017

New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Puschmann A

Current Neurology and Neuroscience Reports, 2017

TMEM230 in Parkinson's disease.

Ibanez L et al.

Neurobiology of Aging, 2017

TMEM230: How does it fit in the etiology and pathogenesis of Parkinson's disease?

Mandemakers W et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Genetic variation associated with the occurrence and progression of neurological disorders.

Little J et al.

Neurotoxicology, 2017

Evaluating the role of TMEM230 variants in Parkinson's disease.

Baumann H et al.

Parkinsonism & Related Disorders, 2017

Mutations in TMEM230 are not a common cause of Parkinson's disease.

Quadri M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

The Role of Co-chaperones in Synaptic Proteostasis and Neurodegenerative Disease.

Gorenberg EL et al.

Frontiers in Neuroscience, 2017

DnaJ/Hsp40 Family and Parkinson's Disease.

Hasegawa T et al.

Frontiers in Neuroscience, 2017

Conjugal parkinsonism - Clinical, pathology and genetic study. No evidence of person-to-person transmission.

Rajput AH et al.

Parkinsonism & Related Disorders, 2016

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.

Ross JP et al.

Neurobiology of Aging, 2016

Identification of TMEM230 mutations in familial Parkinson's disease.

Deng HX et al.

Nature Genetics, 2016

Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder.

Sun N et al.

Frontiers in Psychiatry, 2016

Insights from late-onset familial parkinsonism on the pathogenesis of idiopathic Parkinson's disease.

Volta M et al.

The Lancet. Neurology, 2015

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.

Lorenzo-Betancor O et al.

European Journal of Neurology, 2015

VPS35 and DNAJC13 disease-causing variants in essential tremor.

Rajput A et al.

European Journal of Human Genetics : Ejhg, 2015

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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."