Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome
About this item
Full title
Author / Creator
Burnett, Lisa C. , LeDuc, Charles A. , Sulsona, Carlos R. , Paull, Daniel , Rausch, Richard , Eddiry, Sanaa , Carli, Jayne F. Martin , Morabito, Michael V. , Skowronski, Alicja A. , Hubner, Gabriela , Zimmer, Matthew , Wang, Liheng , Day, Robert , Levy, Brynn , Fennoy, Ilene , Dubern, Beatrice , Poitou, Christine , Clement, Karine , Butler, Merlin G. , Rosenbaum, Michael , Salles, Jean Pierre , Tauber, Maithe , Driscoll, Daniel J. , Egli, Dieter and Leibel, Rudolph L.
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an imprinted region of chromosome 15q. Among the canonical PWS phenotypes are hyperphagic obesity, central hypogonadism, and low growth hormone (GH). Rare microdeletions in PWS patients define a 91-kb minimum critical deletion region encompassing 3 genes, including the...
Alternative Titles
Full title
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome
Authors, Artists and Contributors
Author / Creator
LeDuc, Charles A.
Sulsona, Carlos R.
Paull, Daniel
Rausch, Richard
Eddiry, Sanaa
Carli, Jayne F. Martin
Morabito, Michael V.
Skowronski, Alicja A.
Hubner, Gabriela
Zimmer, Matthew
Wang, Liheng
Day, Robert
Levy, Brynn
Fennoy, Ilene
Dubern, Beatrice
Poitou, Christine
Clement, Karine
Butler, Merlin G.
Rosenbaum, Michael
Salles, Jean Pierre
Tauber, Maithe
Driscoll, Daniel J.
Egli, Dieter
Leibel, Rudolph L.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5199710
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5199710
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI88648
