Publications de Alessandra Musso

alpha-Synuclein-induced dopaminergic neurodegeneration in a rat model of Parkinson's disease occurs independent of ATP13A2 (PARK9)

Bernard Schneider, Elpida Tsika, Liliane Glauser, Alessandra Musso, Guillaume Daniel, Darren Moore, Aris Nikolaos Fiser

Mutations in the ATP13A2 (PARK9) gene cause early-onset, autosomal recessive Parkinson's disease (PD) and Kufor-Rakeb syndrome. ATP13A2 mRNA is spliced into three distinct isoforms encoding a P5-type ATPase involved in regulating heavy metal transport acro ...

Academic Press Inc Elsevier Science2015

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

Exploring the pathological interaction between LRRK2 and alpha-synuclein : two key genes implicated in Parkinson's disease

Alessandra Musso

Parkinson’s disease (PD) is the most common age-related neurodegenerative movement disorder that affects 1-2% of the general population over the age of 65 and rising to 4-5% over 80 years of age. It is estimated that 6.3 million people worldwide have Parki ...

EPFL2014

Neurodegenerative phenotypes in an A53T-synuclein transgenic mouse model are independent of LRRK2

Darren Moore, Alessandra Musso

Mutations in the genes encoding LRRK2 and -synuclein cause autosomal dominant forms of familial Parkinsons disease (PD). Fibrillar forms of -synuclein are a major component of Lewy bodies, the intracytoplasmic proteinaceous inclusions that are a pathologic ...

Oxford University Press2012

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