Publications de Alzbeta Trancikova

GTPase activity regulates kinase activity and cellular phenotypes of Parkinson's disease-associated LRRK2

Liliane Glauser, Darren Moore, Alzbeta Trancikova

Oxford University Press2013

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

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

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

Mitochondrial Dysfunction in Genetic Animal Models of Parkinson's Disease

Elpida Tsika, Darren Moore, Alzbeta Trancikova

Mitochondria are highly dynamic, multifunctional organelles. Aside from their major role in energy metabolism, they are also crucial for many cellular processes including neurotransmission, synaptic maintenance, calcium homeostasis, cell death, and neurona ...

2012

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