Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism(400 views) Quadri M, Fang M, Picillo M, Olgiati S, Breedveld Gj Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappata S, Quarantelli M, Annesi G, Quattrone A, Chien Hf Barbosa ER, International Parkinsonism Genetics Network Oostra Ba Barone P, Wang J, Bonifati V
Hum Mutat (ISSN: 1059-7794, 1098-1004, 1098-1004electronic), 2013 Sep; 34(9): 1208-1215.
Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
BGI-Shenzhen, Shenzhen, China
Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
IDC Hermitage-Capodimonte Institute, Naples, Italy
Department of Medicine and Surgery, CEMAND, University of Salerno, Salerno, Italy
Biostructure and Bioimaging Institute, National Research Council, Naples, Italy
Institute of Neurological Science, National Research Council, Cosenza, Italy
Department of Biology, University of Copenhagen, Copenhagen, Denmark
King Abdulaziz University, Jeddah, Saudi Arabia
The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark
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Mani, M., Lee, S. Y., Lucast, L., Cremona, O., Di Paolo, G., De Camilli, P., Ryan, T. A., The dual phosphatase activity of synaptojanin1 is required for both efficient synaptic vesicle endocytosis and reavailability at nerve terminals (2007) Neuron, 56 (6), pp. 1004-1018
McPherson, P. S., Garcia, E. P., Slepnev, V. I., David, C., Zhang, X., Grabs, D., Sossin, W. S., De Camilli, P., A presynaptic inositol-5-phosphatase (1996) Nature, 379 (6563), pp. 353-357
Nalls, M. A., Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. International Parkinson Disease Genomics Consortium (2011) Lancet, 377 (9766), pp. 641-649
Nemani, V. M., Lu, W., Berge, V., Nakamura, K., Onoa, B., Lee, M. K., Chaudhry, F. A., Edwards, R. H., Increased expression of alpha-synuclein reduces neurotransmitter release by inhibiting synaptic vesicle reclustering after endocytosis (2010) Neuron, 65 (1), pp. 66-79
Perera, R. M., Zoncu, R., Lucast, L., De Camilli, P., Toomre, D., Two synaptojanin 1 isoforms are recruited to clathrin-coated pits at different stages (2006) Proc Natl Acad Sci USA, 103 (51), pp. 19332-19337
Ramjaun, A. R., McPherson, P. S., Tissue-specific alternative splicing generates two synaptojanin isoforms with differential membrane binding properties (1996) J Biol Chem, 271 (40), pp. 24856-24861
Singleton, A. B., Farrer, M. J., Bonifati, V., The genetics of Parkinson's disease: progress and therapeutic implications (2013) Mov Disord, 28 (1), pp. 14-23
Trempe, J. F., Chen, C. X., Grenier, K., Camacho, E. M., Kozlov, G., McPherson, P. S., Gehring, K., Fon, E. A., SH3 domains from a subset of BAR proteins define a Ubl-binding domain and implicate parkin in synaptic ubiquitination (2009) Mol Cell, 36 (6), pp. 1034-1047
Valente, E. M., Abou-Sleiman, P. M., Caputo, V., Muqit, M. M., Harvey, K., Gispert, S., Ali, Z., Nussbaum, R., Hereditary early-onset Parkinson's disease caused by mutations in PINK1 (2004) Science, 304 (5674), pp. 1158-1160
Yim, Y. I., Sun, T., Wu, L. G., Raimondi, A., De Camilli, P., Eisenberg, E., Greene, L. E., Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice (2010) Proc Natl Acad Sci USA, 107 (9), pp. 4412-4417
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism
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