Deficiency in prohormone convertase PC 1 impairs prohormone processing in Prader-Willi syndrome

[1]  D. J. Driscoll,et al.  Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS. , 2016, Stem cell research.

[2]  S. O’Rahilly,et al.  PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders. , 2016, Endocrine reviews.

[3]  D. J. Driscoll,et al.  Elevated plasma oxytocin levels in children with Prader–Willi syndrome compared with healthy unrelated siblings , 2016, American journal of medical genetics. Part A.

[4]  L. Zwaigenbaum,et al.  Autism spectrum disorder in Prader–Willi syndrome: A systematic review , 2015, American journal of medical genetics. Part A.

[5]  A. Guastella,et al.  The effect of oxytocin nasal spray on social interaction deficits observed in young children with autism: a randomized clinical crossover trial , 2015, Molecular Psychiatry.

[6]  M. Butler,et al.  Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings , 2015, Journal of Endocrinological Investigation.

[7]  M. Tauber,et al.  Elevated ratio of acylated to unacylated ghrelin in children and young adults with Prader–Willi syndrome , 2015, Endocrine.

[8]  M. Schwartz,et al.  Chronic oxytocin administration inhibits food intake, increases energy expenditure, and produces weight loss in fructose-fed obese rhesus monkeys. , 2015, American journal of physiology. Regulatory, integrative and comparative physiology.

[9]  D. J. Driscoll,et al.  Hyperghrelinemia in Prader‐Willi syndrome begins in early infancy long before the onset of hyperphagia , 2015, American journal of medical genetics. Part A.

[10]  P. Franks,et al.  The association of common variants in PCSK1 with obesity: a HuGE review and meta-analysis. , 2014, American journal of epidemiology.

[11]  J. Cavaille,et al.  Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome , 2014, European Journal of Human Genetics.

[12]  G. Nicolao,et al.  The GHRH + arginine stimulated pituitary GH secretion in children and adults with Prader-Willi syndrome shows age- and BMI-dependent and genotype-related differences. , 2013, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

[13]  R. Rodriguiz,et al.  Disruption of the expression of the proprotein convertase PC7 reduces BDNF production and affects learning and memory in mice , 2013, Proceedings of the National Academy of Sciences.

[14]  J. Blevins,et al.  Role of oxytocin signaling in the regulation of body weight , 2013, Reviews in Endocrine and Metabolic Disorders.

[15]  J. Born,et al.  Oxytocin Reduces Reward-Driven Food Intake in Humans , 2013, Diabetes.

[16]  Beverley Balkau,et al.  Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features. , 2013, The Journal of clinical investigation.

[17]  C. Sokollik,et al.  Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort. , 2013, Gastroenterology.

[18]  H. Herzog,et al.  Mouse models of Prader–Willi Syndrome: A systematic review , 2013, Frontiers in Neuroendocrinology.

[19]  Xiaorong Zhu,et al.  Biosynthesis of proTRH-derived peptides in prohormone convertase 1 and 2 knockout mice , 2012, Peptides.

[20]  Yaping Yang,et al.  Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation , 2011, International journal of pediatric endocrinology.

[21]  S. Wardlaw.  Hypothalamic proopiomelanocortin processing and the regulation of energy balance. , 2011, European journal of pharmacology.

[22]  R. Lyons,et al.  Comment on: Polonsky et al. Structured Self-Monitoring of Blood Glucose Significantly Reduces A1C Levels in Poorly Controlled, Noninsulin-Treated Type 2 Diabetes: Results From the Structured Testing Program Study. Diabetes Care 2011;34:262–267 , 2011, Diabetes Care.

[23]  J. Rosenfeld,et al.  Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome , 2010, European Journal of Human Genetics.

[24]  C. Newgard,et al.  Lower brain-derived neurotrophic factor in patients with prader-willi syndrome compared to obese and lean control subjects. , 2010, The Journal of clinical endocrinology and metabolism.

[25]  M. Mulholland,et al.  Regulation of food intake and body weight by recombinant proghrelin. , 2009, American journal of physiology. Endocrinology and metabolism.

[26]  K. Thomas,et al.  A Simple Role for BDNF in Learning and Memory? , 2009, Front. Mol. Neurosci..

[27]  S. O’Rahilly,et al.  A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. , 2009, Human molecular genetics.

[28]  M. Tomishima,et al.  Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling , 2009, Nature Biotechnology.

[29]  A. Zinn,et al.  Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice. , 2008, Molecular endocrinology.

[30]  J. Salles,et al.  Hyperghrelinemia precedes obesity in Prader-Willi syndrome. , 2008, The Journal of clinical endocrinology and metabolism.

[31]  T. Kawada,et al.  Oxytocin receptor-deficient mice developed late-onset obesity , 2008, Neuroreport.

[32]  D. Good,et al.  Nescient helix-loop-helix 2 interacts with signal transducer and activator of transcription 3 to regulate transcription of prohormone convertase 1/3. , 2008, Molecular endocrinology.

[33]  S. Cheung,et al.  Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster , 2008, Nature Genetics.

[34]  U. Francke,et al.  SnoRNA Snord116 (Pwcr1/MBII-85) Deletion Causes Growth Deficiency and Hyperphagia in Mice , 2008, PloS one.

[35]  N. Grishin,et al.  Identification of the Acyltransferase that Octanoylates Ghrelin, an Appetite-Stimulating Peptide Hormone , 2008, Cell.

[36]  Valery Shepelev,et al.  snoTARGET shows that human orphan snoRNA targets locate close to alternative splice junctions. , 2008, Gene.

[37]  J. Brosius,et al.  Deletion of the MBII-85 snoRNA Gene Cluster in Mice Results in Postnatal Growth Retardation , 2007, PLoS genetics.

[38]  E. Nillni.  Regulation of prohormone convertases in hypothalamic neurons: implications for prothyrotropin-releasing hormone and proopiomelanocortin. , 2007, Endocrinology.

[39]  M. Butler,et al.  Plasma obestatin and ghrelin levels in subjects with Prader–Willi syndrome , 2007, American journal of medical genetics. Part A.

[40]  D. Bittel,et al.  Whole genome microarray analysis of gene expression in Prader–Willi syndrome , 2007, American journal of medical genetics. Part A.

[41]  Xiaorong Zhu,et al.  On the Processing of Proghrelin to Ghrelin* , 2006, Journal of Biological Chemistry.

[42]  N. Gekakis,et al.  Obesity, hyperphagia and increased metabolic efficiency in Pc1 mutant mice. , 2006, Human molecular genetics.

[43]  Xiaorong Zhu,et al.  Agouti-related protein is posttranslationally cleaved by proprotein convertase 1 to generate agouti-related protein (AGRP)83-132: interaction between AGRP83-132 and melanocortin receptors cannot be influenced by syndecan-3. , 2006, Endocrinology.

[44]  刘金明,et al.  IL-13受体α2降低血吸虫病肉芽肿的炎症反应并延长宿主存活时间[英]/Mentink-Kane MM,Cheever AW，Thompson RW，et al//Proc Natl Acad Sci U S A , 2005 .

[45]  Xiaorong Zhu,et al.  Neuropeptide processing profile in mice lacking prohormone convertase-1. , 2005, Biochemistry.

[46]  Z. Talebizadeh,et al.  Plasma Peptide YY and Ghrelin Levels in Infants and Children with Prader-Willi Syndrome , 2004, Journal of pediatric endocrinology & metabolism : JPEM.

[47]  E. Nillni,et al.  Deletion of the Nhlh2 transcription factor decreases the levels of the anorexigenic peptides alpha melanocyte-stimulating hormone and thyrotropin-releasing hormone and implicates prohormone convertases I and II in obesity. , 2004, Endocrinology.

[48]  N. Seidah,et al.  Stepwise posttranslational processing of progrowth hormone-releasing hormone (proGHRH) polypeptide by furin and PC1 , 2004, Endocrine.

[49]  M. Thorén,et al.  Peptides associated with hyperphagia in adults with Prader-Willi syndrome before and during GH treatment. , 2003, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

[50]  J. Holst,et al.  Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. , 2003, The Journal of clinical investigation.

[51]  A. Haqq,et al.  Circulating ghrelin levels are suppressed by meals and octreotide therapy in children with Prader-Willi syndrome. , 2003, The Journal of clinical endocrinology and metabolism.

[52]  S. O’Rahilly,et al.  Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. , 2003, Human molecular genetics.

[53]  E. Haan,et al.  Birth prevalence of Prader-Willi syndrome in Australia , 2003, Archives of disease in childhood.

[54]  J. Bunt,et al.  High circulating ghrelin: a potential cause for hyperphagia and obesity in prader-willi syndrome. , 2002, The Journal of clinical endocrinology and metabolism.

[55]  T. Hosmer,et al.  Reduced voluntary activity precedes adult-onset obesity in Nhlh2 knockout mice , 2002, Physiology & Behavior.

[56]  Chunling Zhang,et al.  Disruption of PC1/3 expression in mice causes dwarfism and multiple neuroendocrine peptide processing defects , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[57]  L. Orci,et al.  Severe block in processing of proinsulin to insulin accompanied by elevation of des-64,65 proinsulin intermediates in islets of mice lacking prohormone convertase 1/3 , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[58]  M. Schwartz,et al.  Elevated plasma ghrelin levels in Prader–Willi syndrome , 2002, Nature Medicine.

[59]  K. Kangawa,et al.  Ghrelin: discovery of the natural endogenous ligand for the growth hormone secretagogue receptor , 2001, Trends in Endocrinology & Metabolism.

[60]  E. Ravussin,et al.  Circulating ghrelin levels are decreased in human obesity. , 2001, Diabetes.

[61]  M. Marcinkiewicz,et al.  The pro-protein convertase PC1 is induced in the transected sciatic nerve and is present in cultured Schwann cells: comparison with PC5, furin and PC7, implication in pro-BDNF processing. , 1998, Brain research. Molecular brain research.

[62]  D F Swaab,et al.  Prader—Willi syndrome and the hypothalamus , 1997, Acta paediatrica (Oslo, Norway : 1992). Supplement.

[63]  D. Ledbetter,et al.  A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13. , 1996, American journal of medical genetics.

[64]  M. Ono,et al.  Characterization and Localization of Mouse Hypothalamic Growth Hormone‐Releasing Factor and Effect of Gold Thioglucose‐Induced Hypothalamic Lesions , 1994, Journal of neuroendocrinology.

[65]  Suzanne B. Cassidy,et al.  Prader-Willi syndrome , 1989, Genetics in Medicine.

[66]  V. A. Holm,et al.  Management of Prader-Willi Syndrome , 1977, The Journal of pediatrics.

[67]  N. Seidah.  The proprotein convertases, 20 years later. , 2011, Methods in molecular biology.

[68]  S. O’Rahilly,et al.  Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome. , 2003, The Journal of clinical endocrinology and metabolism.

[69]  E. Nillni,et al.  Posttranslational processing of progrowth hormone-releasing hormone. , 1999, Endocrinology.