Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
Napoli, Italy. In Parkinsonism Relat Disord, Jan 2016
INTRODUCTION: PARK20 is a rare autosomal recessive parkinsonism related to the SYNJ1 gene and characterized by early-onset of disease and atypical signs such as supranuclear vertical gaze palsy, dementia, dystonia, and generalized tonic-clonic seizures.
Time-dependent changes in the mouse hippocampal synaptic membrane proteome after contextual fear conditioning.
Amsterdam, Netherlands. In Hippocampus, Nov 2015
From the proteins that were differentially regulated between the delayed- and the immediate-shock groups at 4 h, 48 proteins, most prominently representing endocytosis, (amphiphysin, dynamin, and synaptojanin1), glutamate signaling (glutamate [NMDA] receptor subunit epsilon-1, disks large homolog 3), and neurotransmitter metabolism (excitatory amino acid transporter 1, excitatory amino acid transporter 2, sodium- and chloride-dependent GABA transporter 3) were regulated in both protocols, but in opposite directions, pointing toward an interaction of learning and stress.
Coordinated Expression of Phosphoinositide Metabolic Genes during Development and Aging of Human Dorsolateral Prefrontal Cortex.
Bethesda, United States. In Plos One, 2014
In each interval, ITPKB, PLCD1, PIK3R3, ISYNA1, IMPA2, INPPL1, PI4KB, and AKT1 are in Group 1, PIK3CB, PTEN, PIK3CA, and IMPA1 in Group 2, and SACM1L, PI3KR4, INPP5A, SYNJ1, and PLCB1 in Group 3.
Genetics of Parkinson's disease--state of the art, 2013.
Rotterdam, Netherlands. In Parkinsonism Relat Disord, 2014
Here, I first outline the evolution of the research strategies to find PD-related genes, and then focus on recent advances in the field of the monogenic forms, including VPS35 mutations in autosomal dominant PD, and DNAJC6 and SYNJ1 mutations in recessive forms of juvenile parkinsonism.
The function of endocytosis in podocytes.
New Haven, United States. In Curr Opin Nephrol Hypertens, 2013
Recent evidence suggests that loss of key clathrin endocytic regulatory apparatus, such as dynamin, synaptojanin 1 or endophilin, in genetic mouse models of disease results in severe proteinuria and foot process effacement.
Differential role for synaptojanin 1 in rod and cone photoreceptors.
Seattle, United States. In J Comp Neurol, 2010
This protein localized predominantly to cone photoreceptors. Using blastula stage transplantation experiments, study demonstrates that rods from mutants lacking SynJ1 develop normally and do not have the pronounced morphological defects detected in cones
Multiple genes and factors associated with bipolar disorder converge on growth factor and stress activated kinase pathways controlling translation initiation: implications for oligodendrocyte viability.
In Neurochem Int, 2007
Several form most of the components of a phosphatidyl-inositol signalling/AKT1 survival pathway (PIK3C3, PIP5K2A, PLCG1, SYNJ1, IMPA2, AKT1, GSK3B, TCF4) which is activated by growth factors (BDNF, NRG1) and also by NMDA receptors (GRIN1, GRIN2A, GRIN2B).