Diet, Obesity, and Cardiovascular Risk, New England Journal of Medicine, vol.348, issue.21, pp.2057-2058, 2003. ,
DOI : 10.1056/NEJMp030053
Obesity and leptin resistance: distinguishing cause from effect, Trends in Endocrinology & Metabolism, vol.21, issue.11, pp.643-651, 2010. ,
DOI : 10.1016/j.tem.2010.08.002
Positional cloning of the mouse obese gene and its human
homologue, Nature, vol.372, issue.6505, pp.425-432, 1994. ,
DOI : 10.1038/372425a0
Identification and expression cloning of a leptin receptor, OB-R, Cell, vol.83, issue.7, pp.1263-1271, 1995. ,
DOI : 10.1016/0092-8674(95)90151-5
Guy-Grand B 1998 A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction, Nature, vol.392, pp.398-401 ,
Clinical and Molecular Genetic Spectrum of Congenital Deficiency of the Leptin Receptor, New England Journal of Medicine, vol.356, issue.3, pp.237-247, 2007. ,
DOI : 10.1056/NEJMoa063988
Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity, Molecular Genetics and Metabolism, vol.102, issue.4, pp.461-464, 2011. ,
DOI : 10.1016/j.ymgme.2010.12.013
The leptin receptor promoter controls expression of a second distinct protein, Nucleic Acids Research, vol.25, issue.14, pp.2752-2758 ,
DOI : 10.1093/nar/25.14.2752
Novel B219/OB receptor isoforms: Possible role of leptin in hematopoiesis and reproduction, Nature Medicine, vol.82, issue.5, pp.585-589, 1996. ,
DOI : 10.1038/ng0396-318
Silencing of OB-RGRP in mouse hypothalamic arcuate nucleus increases leptin receptor signaling and prevents diet-induced obesity, Proceedings of the National Academy of Sciences, vol.104, issue.49, pp.19476-19481, 2007. ,
DOI : 10.1073/pnas.0706671104
URL : https://hal.archives-ouvertes.fr/inserm-00326136
MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly, Human Mutation, vol.80, issue.12, pp.1189-1197, 2007. ,
DOI : 10.1002/humu.20594
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?, Journal of Medical Genetics, vol.46, issue.12, pp.847-855, 2009. ,
DOI : 10.1136/jmg.2008.058156
URL : https://hal.archives-ouvertes.fr/inserm-00325658
Clathrin uncoating: Auxilin comes to life, Current Biology, vol.11, issue.2, pp.49-52, 2001. ,
DOI : 10.1016/S0960-9822(01)00010-0
The Leptin Receptor, Journal of Biological Chemistry, vol.272, issue.10, pp.6093-6096, 1997. ,
DOI : 10.1074/jbc.272.10.6093
Cloning and characterization of a novel human leptin receptor overlapping transcript-like 1 gene (LEPROTL1), Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression, vol.1517, issue.2, 2002. ,
DOI : 10.1016/S0167-4781(00)00266-9
Recruitment of endophilin to clathrincoated pit necks is required for efficient vesicle uncoating after fission Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene, Neuron Am J Med Genet A, vol.72, issue.124, pp.587-601364, 2004. ,
The Rho-Linked Mental Retardation Protein OPHN1 Controls Synaptic Vesicle Endocytosis via Endophilin A1, Current Biology, vol.19, issue.13, pp.1133-1142 ,
DOI : 10.1016/j.cub.2009.05.022
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family, Human Mutation, vol.26, issue.11, pp.2294-307, 2011. ,
DOI : 10.1002/humu.21567
Frankel WN 2010 A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice, PLoS Genet, vol.6, issue.8 ,
Decreased Synaptic Vesicle Recycling Efficiency and Cognitive Deficits in Amphiphysin 1 Knockout Mice, Essential role of phosphoinositide metabolism in synaptic vesicle recycling, pp.789-804179, 1999. ,
DOI : 10.1016/S0896-6273(02)00601-3
Delayed reentry of recycling vesicles into the fusion-competent synaptic vesicle pool in synaptojanin 1 knockout mice, Proceedings of the National Academy of Sciences, vol.99, issue.26, pp.17143-17151, 2002. ,
DOI : 10.1073/pnas.222657399
Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency, Journal of Clinical Investigation, vol.110, issue.8, pp.1093-1103, 2002. ,
DOI : 10.1172/JCI0215693
Minireview: human obesity-lessons from monogenic disorders, Endocrinology, vol.144, pp.3757-64, 2003. ,
Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene, Diabetes, vol.55, issue.12, pp.3366-71, 2006. ,
DOI : 10.2337/db06-0550
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay, Nature Neuroscience, vol.127, issue.11, pp.1187-1196, 2004. ,
DOI : 10.1038/ng0896-485
LEPROT and LEPROTL1 cooperatively decrease hepatic growth hormone action in mice, Journal of Clinical Investigation, vol.119, issue.12, pp.3830-3838, 2009. ,
DOI : 10.1172/JCI34997
URL : https://hal.archives-ouvertes.fr/inserm-00432067