Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

(2011) Choong Yi Fong et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Protein dislocation from the ER

(2010) Katrin Bagola et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Lysosomal Proteolysis and Autophagy Require Presenilin 1 and Are Disrupted by Alzheimer-Related PS1 Mutations

(2010) Ju-Hyun Lee et al.   CELL

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

(2010) Coro Paisán-Ruiz et al.   MOVEMENT DISORDERS

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

(2010) Maria I. Behrens et al.   MOVEMENT DISORDERS

Autophagy gone awry in neurodegenerative diseases

(2010) Esther Wong et al.   NATURE NEUROSCIENCE

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

(2010) Lucio Santoro et al.   NEUROGENETICS

Ubiquilin and p97/VCP bind erasin, forming a complex involved in ERAD

(2009) Precious J. Lim et al.   JOURNAL OF CELL BIOLOGY

Parkinson's disease

(2009) Andrew J Lees et al.   LANCET

The ubiquitylation machinery of the endoplasmic reticulum

(2009) Christian Hirsch et al.   NATURE

α-Synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

(2009) Aaron D Gitler et al.   NATURE GENETICS

Molecular and cellular basis of lysosomal transmembrane protein dysfunction

(2008) Raquel Ruivo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Parkinson’s disease: A genetic perspective

(2008) Andrea C. Belin et al.   FEBS Journal

ALS-linked mutant SOD1 induces ER stress- and ASK1-dependent motor neuron death by targeting Derlin-1

(2008) H. Nishitoh et al.   GENES & DEVELOPMENT

Impaired ERAD and ER stress are early and specific events in polyglutamine toxicity

(2008) M. L. Duennwald et al.   GENES & DEVELOPMENT

One step at a time: endoplasmic reticulum-associated degradation

(2008) Shruthi S. Vembar et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore

(2008) C. H. Lin et al.   NEUROLOGY

PARK9-LINKED PARKINSONISM IN EASTERN ASIA: MUTATION DETECTION IN ATP13A2 AND CLINICAL PHENOTYPE

(2008) Y. P. Ning et al.   NEUROLOGY

Ubiquitin signals autophagic degradation of cytosolic proteins and peroxisomes

(2008) P. K. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA