Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.A398T
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PRKN

NM_004562.3:p.A398T

Associated Papers

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

Structure-based design and characterization of Parkin-activating mutations.

Stevens MU et al.

Life Science Alliance, 2023

Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.

Lubbe SJ et al.

Human Molecular Genetics, 2021

33448283 (PubMed )
Supplement: 2020_12_09_monoallelic_v31_hmg_suppl_data_accepted_ddaa273.docx

Dysfunction of Synaptic Vesicle Endocytosis in Parkinson's Disease.

Zou L et al.

Frontiers in Integrative Neuroscience, 2021

Bioenergetics and Autophagic Imbalance in Patients-Derived Cell Models of Parkinson Disease Supports Systemic Dysfunction in Neurodegeneration.

González-Casacuberta I et al.

Frontiers in Neuroscience, 2019

UbMES and UbFluor: Novel probes for ring-between-ring (RBR) E3 ubiquitin ligase PARKIN.

Park S et al.

The Journal of Biological Chemistry, 2017

Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.

Yin CL et al.

Molecular Autism, 2016

Molecular mechanisms underlying PINK1 and Parkin catalyzed ubiquitylation of substrates on damaged mitochondria.

Koyano F et al.

Biochimica Et Biophysica Acta, 2015

Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.

Fiesel FC et al.

Human Mutation, 2015

Parkin Is Dispensable for Mitochondrial Function, but Its Ubiquitin Ligase Activity Is Critical for Macroautophagy and Neurotransmitters: Therapeutic Potential beyond Parkinson's Disease.

Moussa CE

Neuro-degenerative Diseases, 2015

Genetic insights into sporadic Parkinson's disease pathogenesis.

Chai C et al.

Current Genomics, 2013

Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.

Oczkowska A et al.

Current Genomics, 2013

Structure of the human Parkin ligase domain in an autoinhibited state.

Wauer T et al.

The Embo Journal, 2013

Compact Parkin only: insights into the structure of an autoinhibited ubiquitin ligase.

Byrd RA et al.

The Embo Journal, 2013

Structure and function of Parkin E3 ubiquitin ligase reveals aspects of RING and HECT ligases.

Riley BE et al.

Nature Communications, 2013

Phenotype analysis in patients with early onset Parkinson's disease with and without parkin mutations.

Kim HJ et al.

Journal of Neurology, 2011

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

Identification and characterization of a novel endogenous murine parkin mutation.

Ramsey CP et al.

Journal of Neurochemistry, 2010

Parkin-associated Parkinson's disease.

von Coelln R et al.

Cell and Tissue Research, 2004

Parkin genetics: one model for Parkinson's disease.

Mata IF et al.

Human Molecular Genetics, 2004

Parkin mutations are frequent in patients with isolated early-onset parkinsonism.

Periquet M et al.

Brain : a Journal of Neurology, 2003

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