Publications de Klodjan Stafa | EPFL Graph Search

A Parkinson's disease gene regulatory network identifies the signaling protein RGS2 as a modulator of LRRK2 activity and neuronal toxicity

Patrick Aebischer, Bernard Schneider, Julien Dusonchet, Liliane Glauser, Darren Moore, Klodjan Stafa

Mutations in LRRK2 are one of the primary genetic causes of Parkinson's disease (PD). LRRK2 contains a kinase and a GTPase domain, and familial PD mutations affect both enzymatic activities. However, the signaling mechanisms regulating LRRK2 and the pathog ...

Oxford University Press2014

Functional interaction of Parkinsons disease-associated LRRK2 with members of the dynamin GTPase superfamily

Liliane Glauser, Elpida Tsika, Klodjan Stafa, Darren Moore, Alessandra Musso, Amy Jones

Mutations in LRRK2 cause autosomal dominant Parkinsons disease (PD). LRRK2 encodes a multi-domain protein containing GTPase and kinase domains, and putative proteinprotein interaction domains. Familial PD mutations alter the GTPase and kinase activity of L ...

Oxford University Press2014

Defining the Protein Interactome of Parkinson's Disease-Associated LRRK2

Klodjan Stafa

EPFL2013

Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism

Liliane Glauser, Alessandra Musso, Darren Moore, Sarah Catherine Sonnay, Klodjan Stafa, Alzbeta Trancikova, Agata Podhajska

Mutations in the ATP13A2 gene (PARK9) cause autosomal recessive, juvenile-onset Kufor-Rakeb syndrome (KRS), a neurodegenerative disease characterized by parkinsonism. KRS mutations produce truncated forms of ATP13A2 with impaired protein stability resultin ...

Public Library of Science2012

PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity

Liliane Glauser, Elpida Tsika, Klodjan Stafa, Darren Moore, Alzbeta Trancikova, Sarah Catherine Sonnay, Agata Podhajska, David Ramonet Jimenez

Mutations in the ATP13A2 gene (PARK9, OMIM 610513) cause autosomal recessive, juvenile-onset Kufor-Rakeb syndrome and early-onset parkinsonism. ATP13A2 is an uncharacterized protein belonging to the P-5-type ATPase subfamily that is predicted to regulate t ...

Oxford University Press2012

GTPase Activity and Neuronal Toxicity of Parkinson's Disease-Associated LRRK2 Is Regulated by ArfGAP1

Liliane Glauser, Klodjan Stafa, Darren Moore, Alzbeta Trancikova

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common cause of autosomal dominant familial Parkinson's disease (PD) and also contribute to idiopathic PD. LRRK2 encodes a large multi-domain protein with GTPase and kinase activity. I ...

Public Library of Science2012

Phosphorylation of 4E-BP1 in the Mammalian Brain Is Not Altered by LRRK2 Expression or Pathogenic Mutations

Liliane Glauser, Elpida Tsika, Klodjan Stafa, Darren Moore, Alzbeta Trancikova

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are a common cause of autosomal dominant familial Parkinson's disease (PD). LRRK2 encodes a multi-domain protein containing GTPase and kinase enzymatic domains. Disease-associated mutations in LRRK ...

Public Library of Science2012

Parkin promotes the ubiquitination and degradation of the mitochondrial fusion factor mitofusin 1

Liliane Glauser, Darren Moore, Sarah Catherine Sonnay, Klodjan Stafa

Mutations in the parkin gene cause early-onset, autosomal recessive Parkinson's disease. Parkin functions as an E3 ubiquitin ligase to mediate the covalent attachment of ubiquitin monomers or linked chains to protein substrates. Substrate ubiquitination ca ...

2011

Dopaminergic Neuronal Loss, Reduced Neurite Complexity and Autophagic Abnormalities in Transgenic Mice Expressing G2019S Mutant LRRK2

Liliane Glauser, Klodjan Stafa, Darren Moore, Ying Liu, David Ramonet Jimenez

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause late-onset, autosomal dominant familial Parkinson's disease (PD) and also contribute to idiopathic PD. LRRK2 mutations represent the most common cause of PD with clinical and neurochemical fe ...

Public Library of Science2011