Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.E444A
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PRKN

NM_004562.3:p.E444A

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

Therapeutic potential of Parkin and its regulation in Parkinson's disease.

Safreena N et al.

Biochemical Pharmacology, 2024

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

Wauer T 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

23770887 (PubMed )
Supplement: ncomms2982-s1.pdf

A molecular explanation for the recessive nature of parkin-linked Parkinson's disease.

Spratt DE et al.

Nature Communications, 2013

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