PWS Publications of the Grant Holders
Goldstone, A.P., Thomas, E.L., Brynes, A.E., Bell, J.D., Frost, G., Saeed, N.,Hajnal, J.V., Howard, J.K., Holland, A.J., and Bloom, S.R. (2001)
Visceral adipose tissue and metabolic complications of obesity are reduced in Prader-Willi Syndrome female adults: Evidence for novel influences on body fat distribution.
Journal of Clinical Endocrinology and Metabolism 86 (9): 4330-38.
Whittington, J.E., Holland, A.J., Webb, T., Butler, J., Clarke, D., and Boer. H. (2001)
Population prevalence and estimated birth incidence and mortality rate for people with Prader Willi Syndrome in one health district. Journal of Medical Genetics, 38:792-798.
Boer, H., Holland, A.J., Whittington, J., Butler, J., Webb, T. and Clarke, D. (2002)
Psychotic illness in people with Prader Willi Syndrome due to chromosome 15 maternal uniparental disomy The Lancet, 359: 135-136.
Clarke, D.C., Boer, H., Whittington, J.E., Holland, A.J., Butler, J.V. and Webb, T. (2002)
Prader-Willi Syndrome, compulsive and ritualistic behaviours: The first population-based survey. British Journal of Psychiatry, 180: 358-362.
Butler, J., Whittington, J.E., Holland, A.J., Webb, T., Clarke, D., and Boer. H. (2002)
Medical conditions in Prader Willi Syndrome. Developmental Medicine and Child Neurology 44:248-255.
Goldstone, A.P., Brynes, A.E., Thomas, E.L., Bell, J.D., Frost, G., Holland, A.J., Ghatei, M.A., Bloom, S.R. (2002)
Resting metabolic rate, plasma leptin concentrations, leptin receptor expression, and adipose tissue measured by whole-body magnetic resonance imaging in women with Prader-Willi syndrome. American Journal of Clinical Nutrition 75: 468-475.
Ikeda, M., Brown, J., Holland, A.J., Fukuhara, R. and Hodges, J.(2002)
Changes in appetite, food preference and eating habits in frontotemporal dementia and Alzheimer disease. Journal of Neurology, Neurosurgery and Psychiatry 73, 371-376
Whittington, J.E., Holland, A.J., Webb, T., Butler, J.V., Clarke, D.J. and Boer, H. (2002)
Relationship between clinical and genetic diagnosis of Prader-Willi Syndrome. Journal of Medical Genetics.39, 926-932
Webb, T., Whittington, J.E., Clarke, D., Boer, H., Butler, J. and Holland, A.J. (2002)
A study of the influence of different genotypes on the physical and behavioural phenotypes of children and adults. Clinical Genetics 62, 273-281.
Goldstone, A.P., Brynes, A.E., Thomas, E.L., Bell, J.D., Frost, G., Holland, A. and Bloom, S. (2003)
Body composition using whole body magnetic resonance imaging an resting metabolic rate in Prader-Willi Syndrome adults. Journal of Clinical Endocrinology and Metabolism.
Holland, A.J., Whittington, J.E. Butler, J., Webb, T., Boer, H and Clarke, D.J. (2003)
Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi Syndrome. Psychological Medicine, 33, 141-153
Holland, A., Whittington, J., Hinton, E. (2003)
The paradox of Prader-Willi syndrome: a genetic model of starvation. The Lancet, 362, 989-991
Arana FS, Parkinson JA, Hinton E, Holland AJ, Owen AM, Roberts AC. (2003)
Dissociable contributions of the human amygdala and orbitofrontal cortex to incentive motivation and goal selection. Journal of Neuroscience; 23(29):9632-8.
Whittington, J.E., Holland, A.J., Webb, T., Butler, J.V. Clarke, D.J. and Boer, H. (2004)
Cognitive abilities and genotype in a population-based sample of people with Prader-Willi syndrome. Journal of Intellectual Disability Research 48: 172-187
Whittington, J.E., Holland, A.J., Webb, T., Butler, J.V. Clarke, D.J. and Boer, H. (2004)
Underachievement in Prader Willi Syndrome. Journal of Intellectual Disability Research 48: 188-200
Goldstone, A.P., Thomas, E.L., Brynes, A.E., Castroman, G., Edwards, R., Ghatei, M.A., Frost, G., Holland, A.J., Grossman, A.B., Korbonits, M., Bloom, S.R., Bell, J.D. (2004)
Elevated fasting plasma ghrelin in Prader-Willi syndrome adults is not solely explained by their reduced visceral adiposity and insulin resistance. Journal of Clinical Endocrinology and Metabolism 89(4):1718-1726
Hinton, E.C, Parkinson, J.A, Holland, A.J., Arana, F.S., Roberts, A.C., Owen, A.M. (2004)
Neural contributions to the motivational control of appetite in humans. European Journal of Neuroscience 20(5):1411-8, March
Whittington, J.E. & Holland, A.J. Eds. (2004)
Prader-Willi Syndrome: Development and Manifestations. Cambridge University Press. ISBN 0 521 84029.
Isles, A., and Holland, A.J. (2005)
Imprinted genes and mother-offspring interactions. Early Human Development 81, 73-77
Webb, T., Whittington, J., Holland, A.J., Soni, S., Boer, H., Clarke, D., Horsthemke, B. (2006)
CD36 expression and its relationship with obesity in blood cells from people with and without Prader-Willi syndrome. Clinical Genetics 69: 26-32
Hinton, E.C., Holland, A.J., Gellatly, M.S.N., Soni, S., Ghatei, M.A. and Owen, A.M. (2006)
Neural Representations of hunger and satiety in Prader-Willi syndrome. International Journal of Obesity, 30, 313-321
Hinton E.C., Holland A.J., Gellatly, M.S.N., Soni, S. & Owen, A.M. (2006)
An investigation into food preferences and the neural basis of food-related incentive motivation in Prader–Willi syndrome. Journal of Intellectual Disability Research
Maina, E.N., Webb, T., Soni, S. Whittington, J.,Boer, H., Clarke, D. and Holland, A.J. (2007)
Analysis of candidate imprinted genes in PWS subjects with atypical genetics: a possible inactivating mutation in the SNURF/SNRPN minimal promoter. Journal of Human Genetics 52:4 297-307
The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment. Journal of Intellectual Disability Research
Holland, A.J, Whittington, J.E, Cohen, O, Curfs, L, Delahaye, F, Dudley, O, Horsthemke, B, Lindgren, A.C, Nourissier, C, Sharma, N, Vogels, A (in press) The european Prader-Willi Syndrome Clinical Research Database: an aid in the investigation of a rare genetically-determined neurodevelopmental disorder. Journal of Intellectual Disability Research
Tcherpakov, M., Bronfman, F.C., Vaskovsky, A., Conticello, S.G., Levy, Z., Niinobe, M., Yoshikawa, K., Arenas, E., & Fainzilber, M., (2002) The p75 neurotrophin receptor interacts with multiple MAGE proteins. Journal of Biological Chemistry 277, 49101-49104.
Bronfman, F.C., Tcherpakov, M., Jovin, T.M., & Fainzilber. M. (2003) Ligand-induced internalization of the p75 neurotrophin receptor: a slow route to the signaling endosome. Journal of Neuroscience 23, 3209-3220.
Bronfman, F.C. & Fainzilber, M., (2004) Multi-tasking by the p75 receptor: sortilin things out? EMBO Reports5, 867-871.
Bielinska B*, Blaydes SM*, Buiting K*, Yang T, Krajewska-Walasek M,
Horsthemke B**, Brannan CI (2000)
De novo deletions of the SNRPN exon 1 region in early human and mouse embryos result in a paternal to maternal imprint switch. Nature Genetics 25:74-78
Färber C, Groß S, Neesen J, Buiting K, Horsthemke B (2000)
Identification of a testis specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15. Genomics 65:174-183
Buiting K, Färber C, Kroisel P, Wagner K, Brueton L, Robertson ME, Lich C,
B. Horsthemke (2000) Imprinting center deletions in two PWS families: Implications for diagnostic testing and genetic counseling. Clinical Genetics 58:284-290
Cavaille J, Buiting K, Kiefmann M, Lalande M, Brannan C, Horsthemke B, Bachellerie JP, Brosius J, Hüttenhofer A (2000) Identification of imprinted, tissue-specific C/D box small nucleolar RNA genes in the Prader-Willi syndrome region. Proc Natl Acad Sci USA, 97:14311-14316
Wirth J, Back E, Hüttenhofer A, Nothwang HG, Lich C, Groß S, Menzel C, Schinzel A, Kioschis P, Tommerup N, Ropers HH, Horsthemke B, Buiting K (2001)
A translocation breakpoint cluster disrupts the newly defined 3’ end of the SNURF-SNRPN transcription unit on chromosome 15. Human Molecular Genetics, 10:201-210
El-Maarri O, Buiting K, Peery EG, Kroisel PM, Balaban B, Wagner K, Urman B, Brannan CI, Walter J, Horsthemke B. (2001) Maternal methylation imprints on human chromosome 15 are established around or after fertilisation. Nature Genetics 27:341-344
Runte M, Färber C, Lich C, Zeschnigk M, Bucholz T, Smith A, van der Maldergem L. Bürger J, Muscatelli F, Gillessen-Kaesbach G, Horsthemke B, Buiting K (2001)
A comprehensive methylation analysis of PWS and AS patients with normal biparental chromosomes 15. European Journal of Human Genetics, 9:519-526
Runte M, Hüttenhofer A, Groß S, Kiefmann M, Horsthemke B, Buiting K (2001)
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Human Molecular Genetics, 10:2687-2700
Buiting K, Gross S, Lich C, Gillessen-Kaesbach G, El-Maarri O, Horsthemke B. (2003)
Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. American Journal of Human Genetics. 72:571-7.
Horsthemke B, Nazlican H, Hüsing J, Klein-Hitpaß L, Claussen U, Michel S, Lich C, Gillessen-Kaesbach G, Buiting K (2003)
Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes. Human Molecular Genetics, 20:2723-2732
Horsthemke B (2003)
Prader-Willi and Angelman syndrome. Encyclopedia of the Human Genome. Nature
Wey E, Bartholdi D, Riegel M, Nazlican H, Horsthemke B, Schinzel A, Baumer A (2005)
Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. European Journal of Human Genetics, 13:278-282
Runte M, Varon R, Horn D, Horsthemke B, Buiting K. (2005)
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Human Genetics, 116:228-230
Horsthemke B, Buiting K (2005)
Imprinting in Prader-Willi and Angelman syndromes. In Jorde LB, Little PFR, Dunn MJ, Subramaniam S (Eds), Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. John Wiley & Sons Ltd: Chichester, vol 1, pp.245-258.
Horsthemke B (2006)
Prader-Willi and Angelman syndromes. Encyclopedic Reference of Genomics and Proteomics in Molecular medicine. Springer Verlag.
Webb T, Whittington J, Holland AJ, Soni S, Boer H, Clarke D, Horsthemke B (2006)
CD36 expression: relationship with obesity in those with and without Prader-Willi syndrome. Clinical Genetics 69:26-32
Horsthemke B, Buiting K (2006)
Imprinting defects on human chromosome 15. Cytogenetic Genome Research, 113: 292-299
Buiting K, Horsthemke B (2006)
Molecular findings in Prader-Willi syndrome. In Managment in Prader-Willi syndrome (eds. Butler MG, Lee PDK, Whitman) 3rd edition, Springer Verlag New York , pp49-73
Horsthemke B (2006)
Epimutations in human disease. Curr Top Microbiol Immunol, 310:45-5
Zogel C, Böhringer S, Groß S, Varon R, Buiting K, Horsthemke B
Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15. European Journal of Human Genetics, 14:752-8.
C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain. Genomics89:588-595
Teller K, Solovei I, Buiting K, Horsthemke B, Cremer T (2007)
Maintenance of imprinting and nuclear architecture in cycling cells. Proc Natl Acad Sci 104:14970-14975
Horsthemke B (2007)
Rhythm is not enough. Nat Genet 39:1190-1191
Rauch J, Knoch TA, Solovei I, Teller K, Stein S, Buiting K, Horsthemke B, Langowski J, Cremer T, Hausmann M Cremer C (2008)
Lightoptical precision measurements of the architecture of the Prader-Willi Syndrome imprinting locus in human cell nuclei indicate maximum chromatin condensation changes in the few hundred nanometer range. Differentiation, 76:66-82
Horsthemke B, Wagstaff J (2008)
Mechanisms of imprinting of the Prader-Willi/Angelman region. Am J Med Genet, 146:2041-2052
Kanber D, Giltay J, Wieczorek D, Zogel C, Hochstenbach R, Caliebe A, Kuechler A, Horsthemke B, Buiting K (2008)
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet, Epub ahead of press
Zanella S., Tauber M. and Muscatelli F. (2009).
Breathing deficits of the Prader-Willi Syndrome. Respiratory Physiology and Neurobiology. In Press.David Andrieu, Rachel Sturny,Corinne Angelats, Pierre-Alain Fernandez and Françoise Muscatelli.
Lack of Necdin results in defects in central and peripheral nervous system development. Submitted for publication
Mathieu Bertrand, David Andrieu, Michèle Leclercq-Smekens, Sophie Lucas, Françoise Muscatelli and Olivier De Backer.
Disruption of Maged1 in mice leads to decreased aoptosis in the developing nervous system and delayed apoptosis-driven hair follicle regression. Submitted for publication
Zanella, S., Barthelemy, M., Muscatelli, F., and Hilaire, G. (2008a).Necdin gene, respiratory disturbances and Prader-Willi syndrome. Adv Exp Med Biol 605, 159-164.Dudley, O., McManus, B., Vogels, A., Whittington, J. & Muscatelli, F. (2008) Cross-cultural comparisons of obesity and growth in Prader-Willi syndrome. J Intellect Disabil Res 52, 426-36
Sebastien Zanella, Françoise Watrin, Saïda Merabek, Fabienne Marly Michel Roussel, Catherine Gire, Gwenaëlle Diène, Maïté Tauber, Gérard Hilaire,* and Françoise Muscatelli.* (2008) FM and GH have equally participated to this work. Necdin plays a role in the Serotonergic modulation of the mouse respiratory network: implication for Prader-Willi syndrome. Journal of NeuroscienceFeb 13; 28(7):1745-1755
Dudley, O., McManus, B., Vogels, A., Whittington, J. & Muscatelli, F. (2008)Cross-cultural comparisons of obesity and growth in Prader-Willi syndrome. J Intellect Disabil Res 2008 52, 426-36.
Bertrand, MJM, Kenchappa, RS, Andrieu, D, Leclercq-Smekens, M, Nguyen, HNT, Carter,BD, Muscatelli, F, Barker, PA and De Backer, O. In Press. NRAGE, p75NTR adaptator protein, is required for developmental apoptosis in vivo. Cell death and Differentiation. 2008. 15 (12) : 1921-9.
Daniela Deponti, Silvia Baesso, Stéphanie François, Clara Sciorati, Vania Broccoli, Françoise Muscatelli, Raffaella Meneveri, Emilio Clementi, Giulio Cossu and Silvia Brunelli (2007) Necdin mediates skeletal muscle regeneration by promoting myoblast survival and differentiation.
Journal of Cell Biology Oct 22;179(2):305-19.
David Andrieu, Hamid Meziane, Fabienne Marly, Corinne Angelats, Pierre-Alain Fernandez and Françoise Muscatelli (2006) Sensory defects in Necdin deficient mice result from a loss of sensory neurons correlated within an increase of developmental programmed cell death. BMC Developmental Biology. Nov 20;6:56.
Oenone Dudley, F Muscatelli (2006) Clinical evidence of intrauterine disturbance in Prader Willi Syndrome, a genetically imprinted neurodevelopmental disorder. Early Human Development. Oct.17
Le Meur, E., F. Watrin, M. Landers, R. Sturny, M. Lalande, and F. Muscatelli. (2005)
Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region.Developmental Biology 286:587-600.
Watrin, F., E. Le Meur, N. Roeckel, M. A. Ripoche, L. Dandolo, and F. Muscatelli. (2005)
The Prader-Willi syndrome murine imprinting center is not involved in the spatio-temporal transcriptional regulation of the Necdin gene. BMC Genetics 6:1.
Vitali, P., E. Basyuk, E. Le Meur, E. Bertrand, F. Muscatelli, J. Cavaille, and A. Huttenhofer. (2005)
ADAR2-mediated editing of RNA substrates in the nucleolus is inhibited by C/D small nucleolar RNAs. Journal of Cellular Biology 169:745-53
Miguel Landers, Daria Bancescu, Elodie Le Meur, Claire Rougeulle, Heather Glatt-Deeley, Camilynn Brannan, Françoise Muscatelli, and Marc Lalande. (2004)
Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn, Nucleic Acids Research, 32, 3480
David Andrieu, Françoise Watrin., Michio Niinobe, Kasuaki Yoshikawa, Françoise Muscatelli and Pierre Alain Fernandez, P.A. (2003)
Expression of the Prader-Willi gene Necdin during mouse nervous system development correlates with neuronal differentiation and p75NTR expression, Mechanisms of Development: Gene Expr Patterns, 3, 761
Maren Runte, Claudia Färber, Christina Lich, Michael Zeschnigk, Tina Buchholz, Arabella Smith, Lionel Van Maldergem, Joachim Bürger, FranVoise Muscatelli, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Karin Buiting. (2001) Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15. European Journal of Human Genetics.9(7) : 519-526.
Françoise Muscatelli, Djoher Nora Abrous, Annick Massacrier, Irène Boccaccio, Michel Le Moal, Pierrre Cau, Harold Cremer. (2000).
Disruption of the mouse necdin gene results in hypothalamic and behavioral alterations reminiscent of the human prader-willi syndrome. Human Molecular Genetics 9(20): 3101-3110.
Irène Boccaccio, Heather Glatt-Deeley, Françoise Watrin, Nathalie Roëckel, Marc Lalande and Françoise Muscatelli. (1999).
The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region. Human Molecular genetics. Vol. 8, No. 13: 2497-2505.
Philippe Jay, Claire Rougeulle, Annick Massacrier, Anne Moncla, Marie-Geneviève Mattei, Perrine Malzac, Nathalie Roëckel, Sylvie Taviaux, Jean-Louis Bergé Lefranc Pierre Cau, Philippe Berta, Marc Lalande and Françoise Muscatelli. (1997) Human NECDIN is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nature Genetics.; 17(3): 357-361.
Françoise Watrin, Nathalie Roëckel, Laurence Lacroix, Cécile Mignon, Marie-Geneviève Mattei, Christine Disteche & Françoise Muscatelli. (1997) The mouse Necdin gene is maternally imprinted and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region. European Journal of Human Genetics.; 5(5): 324-332.
Lurquin C, De Smet C, Brasseur F, Muscatelli F, Martelange V, De Plaen E,Brasseur R, Monaco AP, Boon T. (1997)Two members of the human MAGEB gene family located in Xp21.3 are expressed in tumors of various histological origins. Genomics;46(3):397-408.
Walker, A.P., Muscatelli, F., Stafford, A.P., Chelly,J., Dahl,N., K:son Blomquist,H., Delanghe,J., Willems,P.J., Steinmann,B. and Monaco, A.P. (1995).
Mutations and phenotype in isolated glycerol kinase deficiency. Am. J. Hum. Genet. 58 (6), 1205-1211.
Muscatelli, F., Walker, A.P., De Plaen, E., and Monaco, A.P. (1995).
Isolation and characterisation of a MAGE-like gene in the Xp21-3 region. Proc. Nat. Acad. Sci. 92, 4987-4991.