Synaptojanin 1 Mutation in Parkinson’s Disease Brings Further Insight into the Neuropathological Mechanisms

Inositol lipid phosphatases in membrane trafficking and human disease

(2014) Peter G. Billcliff et al.   BIOCHEMICAL JOURNAL

Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation

(2014) Sujuan Jia et al.   HUMAN MOLECULAR GENETICS

The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease

(2014) Susen Winkler et al.   JOURNAL OF NEUROLOGY

Clinical progression of SYNJ1-related early onset atypical parkinsonism: 3-year follow up of the original Italian family

(2014) Marina Picillo et al.   JOURNAL OF NEUROLOGY

PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family

(2014) Simone Olgiati et al.   NEUROGENETICS

Synaptojanin 1 Is Required for Endolysosomal Trafficking of Synaptic Proteins in Cone Photoreceptor Inner Segments

(2014) Ashley A. George et al.   PLoS One

Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

(2013) Marialuisa Quadri et al.   HUMAN MUTATION

The Sac1 Domain ofSYNJ1Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

(2013) Catharine E. Krebs et al.   HUMAN MUTATION

Reduction of Synaptojanin 1 Accelerates Aβ Clearance and Attenuates Cognitive Deterioration in an Alzheimer Mouse Model

(2013) Li Zhu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Allogeneic T cell responses are regulated by a specific miRNA-mRNA network

(2013) Yaping Sun et al.   JOURNAL OF CLINICAL INVESTIGATION

Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

(2012) Jack-Christophe Cossec et al.   HUMAN MOLECULAR GENETICS

Cohort Profile: A population-based cohort to study non-motor symptoms in parkinsonism (EPIPARK)

(2012) Meike Kasten et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Role of dynamin, synaptojanin, and endophilin in podocyte foot processes

(2012) Keita Soda et al.   JOURNAL OF CLINICAL INVESTIGATION

Reduction of Synaptojanin 1 Ameliorates Synaptic and Behavioral Impairments in a Mouse Model of Alzheimer's Disease

(2012) L. B. J. McIntire et al.   JOURNAL OF NEUROSCIENCE

LRRK2 Controls an EndoA Phosphorylation Cycle in Synaptic Endocytosis

(2012) Samer Matta et al.   NEURON

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

(2012) Simon Edvardson et al.   PLoS One

Recruitment of Endophilin to Clathrin-Coated Pit Necks Is Required for Efficient Vesicle Uncoating after Fission

(2011) Ira Milosevic et al.   NEURON

Differential regulation of NMDA receptor function by DJ-1 and PINK1

(2010) Ning Chang et al.   AGING CELL

The diverse roles of ribbon synapses in sensory neurotransmission

(2010) Gary Matthews et al.   NATURE REVIEWS NEUROSCIENCE

Increased Expression of α-Synuclein Reduces Neurotransmitter Release by Inhibiting Synaptic Vesicle Reclustering after Endocytosis

(2010) Venu M. Nemani et al.   NEURON

Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice

(2010) Y.-I. Yim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

 -Synuclein Promotes SNARE-Complex Assembly in Vivo and in Vitro

(2010) J. Burre et al.   SCIENCE

Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function

(2009) Vanessa A. Morais et al.   EMBO Molecular Medicine

Inhibition of Calcineurin-mediated Endocytosis and α-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid (AMPA) Receptors Prevents Amyloid β Oligomer-induced Synaptic Disruption

(2009) Wei-Qin Zhao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Differential role for synaptojanin 1 in rod and cone photoreceptors

(2009) Lars C. Holzhausen et al.   JOURNAL OF COMPARATIVE NEUROLOGY

SH3 Domains from a Subset of BAR Proteins Define a Ubl-Binding Domain and Implicate Parkin in Synaptic Ubiquitination

(2009) Jean-François Trempe et al.   MOLECULAR CELL

Upregulation of three Drosophila homologs of human chromosome 21 genes alters synaptic function: Implications for Down syndrome

(2009) K. T. Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

synaptojanin1 Is Required for Temporal Fidelity of Synaptic Transmission in Hair Cells

(2009) Josef G. Trapani et al.   PLoS Genetics

Oligomeric amyloid-β peptide disrupts phosphatidylinositol-4,5-bisphosphate metabolism

(2008) Diego E Berman et al.   NATURE NEUROSCIENCE

Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome

(2008) S. V. Voronov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulation of postsynaptic AMPA responses by synaptojanin 1

(2008) L.-W. Gong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA