4.5 Review

Review:: Familial Parkinson's disease -: genetics, clinical phenotype and neuropathology in relation to the common sporadic form of the disease

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PINK1, a gene product of PARK6, accumulates in α-synucleinopathy brains

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Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations

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Dopaminergic neuronal loss in transgenic mice expressing the Parkinson's disease-associated UCH-L1 193M mutant

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Mutations in DJ-1 are rare in familial Parkinson disease

Nathan Pankratz et al.

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Article Biotechnology & Applied Microbiology

Parkin protects against neurotoxicity in the 6-hydroxydopamine rat model for Parkinson's disease

Linda Vercammen et al.

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Article Clinical Neurology

Localization of LRRK2 to membranous and vesicular structures in mammalian brain

Saskia Biskup et al.

ANNALS OF NEUROLOGY (2006)

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A heterozygous effect for PINK1 mutations in Parkinson's disease?

Patrick M. Abou-Sleiman et al.

ANNALS OF NEUROLOGY (2006)

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Antioxidants protect PINK1-dependent dopaminergic neurons in Drosophila

Danling Wang et al.

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Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease

Demetrius M. Maraganore et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2006)

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Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused inactivation of Drosophila Pink1 is rescued by by Parkin

Yufeng Yang et al.

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Increased level of DJ-1 in the cerebrospinal fluids of sporadic Parkinson's disease

Masaaki Waragai et al.

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Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress

Miratul M. K. Muqit et al.

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PINK1 protein in normal human brain and Parkinson's disease

S. Gandhi et al.

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Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin

Jeehye Park et al.

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Article Clinical Neurology

PINK1 mutations in sporadic early-onset Parkinson's disease

Eng-King Tan et al.

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Susceptibility to rotenone is increased in neurons from parkin null mice and is reduced by minocycline

MJ Casarejos et al.

JOURNAL OF NEUROCHEMISTRY (2006)

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LRRK2 mutations are a common cause of Parkinson's disease in Spain

IF Mata et al.

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LRRK2 expression linked to dopamine-innervated areas

D Galter et al.

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Parkin enhances mitochondrial biogenesis in proliferating cells

Y Kuroda et al.

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Clinical heterogeneity of α-synuclein gene duplication in Parkinson's disease

K Nishioka et al.

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LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs

S Lesage et al.

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LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews

LJ Ozelius et al.

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The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity

CJ Gloeckner et al.

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Anatomical localization of Leucine-rich repeat kinase 2 in mouse brain

H Melrose et al.

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Article Biochemistry & Molecular Biology

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

L Silvestri et al.

HUMAN MOLECULAR GENETICS (2005)

Article Clinical Neurology

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers

PP Pramstaller et al.

ANNALS OF NEUROLOGY (2005)

Article Biochemistry & Molecular Biology

Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease

KM Strauss et al.

HUMAN MOLECULAR GENETICS (2005)

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Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability

A Beilina et al.

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Mitochondrial dysfunction and oxidative damage in parkin-deficient mice

JJ Palacino et al.

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UCHL1 is a Parkinson's disease susceptibility gene

DM Maraganore et al.

ANNALS OF NEUROLOGY (2004)

Article Biochemistry & Molecular Biology

Familial Parkinson's disease-associated L166P mutation disrupts DJ-1 protein folding and function

JA Olzmann et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2004)

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The new mutation, E46K, of α-synuclein causes Parkinson and Lewy body dementia

JJ Zarranz et al.

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DJ-1 has a role in antioxidative stress to prevent cell death

T Taira et al.

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PINK1 mutations are associated with sporadic early-onset parkinsonism

EM Valente et al.

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Neurobiology of α-synulein

K Vekrellis et al.

MOLECULAR NEUROBIOLOGY (2004)

Article Biochemistry & Molecular Biology

Genetic clues to the pathogenesis of Parkinson's disease

M Vila et al.

NATURE MEDICINE (2004)

Article Clinical Neurology

PET neuroimaging and mutations in the DJ-1 gene

MCJ Dekker et al.

JOURNAL OF NEURAL TRANSMISSION (2004)

Article Clinical Neurology

Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations

LN Clark et al.

MOVEMENT DISORDERS (2004)

Article Multidisciplinary Sciences

The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization

RM Canet-Avilés et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)

Article Biochemistry & Molecular Biology

Mutation E46K increases phospholipid binding and assembly into filaments of human α-synuclein

W Choi et al.

FEBS LETTERS (2004)

Article Multidisciplinary Sciences

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

EM Valente et al.

SCIENCE (2004)

Article Genetics & Heredity

Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)

R Hering et al.

HUMAN MUTATION (2004)

Letter Clinical Neurology

Parkinson disease with old-age onset

KA Jellinger

ARCHIVES OF NEUROLOGY (2003)

Article Multidisciplinary Sciences

α-synuclein locus triplication causes Parkinson's disease

AB Singleton et al.

SCIENCE (2003)

Article Biochemistry & Molecular Biology

L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system

DW Miller et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Review Neurosciences

Parkinson's disease: Mechanisms and models

W Dauer et al.

NEURON (2003)

Article Clinical Neurology

The role of pathogenic DJ-1 mutations in Parkinson's disease

PM Abou-Sleiman et al.

ANNALS OF NEUROLOGY (2003)

Article Clinical Neurology

How much phenotypic variation can be attributed to parkin genotype?

E Lohmann et al.

ANNALS OF NEUROLOGY (2003)

Article Clinical Neurology

Parkin mutations and susceptibility alleles in late-onset Parkinson's disease

SA Oliveira et al.

ANNALS OF NEUROLOGY (2003)

Review Geriatrics & Gerontology

Staging of brain pathology related to sporadic Parkinson's disease

H Braak et al.

NEUROBIOLOGY OF AGING (2003)

Article Biochemistry & Molecular Biology

Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death

F Darios et al.

HUMAN MOLECULAR GENETICS (2003)

Article Clinical Neurology

Concurrence of α-synuclein and tau brain pathology in the Contursi kindred

JE Duda et al.

ACTA NEUROPATHOLOGICA (2002)

Article Pathology

Parkin localizes to the Lewy bodies of Parkinson disease and dementia with Lewy bodies

MG Schlossmacher et al.

AMERICAN JOURNAL OF PATHOLOGY (2002)

Review Biochemistry & Molecular Biology

Parkinson's disease:: one biochemical pathway to fit all genes?

R Krüger et al.

TRENDS IN MOLECULAR MEDICINE (2002)

Article Clinical Neurology

PARK6-linked parkinsonism occurs in several European families

EM Valente et al.

ANNALS OF NEUROLOGY (2002)

Article Clinical Neurology

A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1

M Funayama et al.

ANNALS OF NEUROLOGY (2002)

Article Clinical Neurology

Lewy bodies and parkinsonism in families with parkin mutations

M Farrer et al.

ANNALS OF NEUROLOGY (2001)

Review Clinical Neurology

Synucleinopathies - Clinical and pathological implications

JE Galvin et al.

ARCHIVES OF NEUROLOGY (2001)

Article Biochemistry & Molecular Biology

DJ-1 is an indicator for endogenous reactive oxygen species elicited by endotoxin

A Mitsumoto et al.

FREE RADICAL RESEARCH (2001)

Article Neurosciences

Pure autonomic failure in association with human α-synucleinopathy

K Arai et al.

NEUROSCIENCE LETTERS (2000)

Article Multidisciplinary Sciences

Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1

Y Zhang et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)

Article Biochemistry & Molecular Biology

Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity

Y Imai et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2000)

Article Genetics & Heredity

Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase

H Shimura et al.

NATURE GENETICS (2000)

Article Medicine, General & Internal

Association between early-onset Parkinson's disease and mutations in the parkin gene

CB Lücking et al.

NEW ENGLAND JOURNAL OF MEDICINE (2000)

Article Multidisciplinary Sciences

Fiber diffraction of synthetic α-synuclein filaments shows amyloid-like cross-β conformation

LC Serpell et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)

Article Multidisciplinary Sciences

A Drosophila model of Parkinson's disease

MB Feany et al.

NATURE (2000)