A new mutation in the
CGL4
PTRF
adipose tissue
leptin
lipodystrophy
muscular dystrophy
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2023
2023
Historique:
received:
26
04
2023
accepted:
26
06
2023
medline:
31
7
2023
pubmed:
28
7
2023
entrez:
28
7
2023
Statut:
epublish
Résumé
Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background. Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare subtype, caused by mutations in the polymerase I and transcript release factor (
Identifiants
pubmed: 37501786
doi: 10.3389/fendo.2023.1212729
pmc: PMC10369054
doi:
Types de publication
Review
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1212729Informations de copyright
Copyright © 2023 Mancioppi, Daffara, Romanisio, Ceccarini, Pelosini, Santini, Bellone, Mellone, Baricich, Rabbone, Aimaretti, Akinci, Giordano and Prodam.
Déclaration de conflit d'intérêts
FP worked as a consultant for the following companies, which are involved with lipodystrophy and/or diabetes: Aegerion/Amryt Pharmaceuticals, Novo Nordisk. BA attended advisory board meetings organized by Amryt Pharmaceuticals and Regeneron Pharmaceuticals and has served as a consultant and/or received honoraria as a speaker from Third Rock Ventures, Amryt, Regeneron, AstraZeneca, Lilly, MSD, Novartis, Novo Nordisk, Boehringer-Ingelheim, Servier, and Sanofi-Aventis. GC has received fees for consulting and/or received travel funds or participated in studies from the following companies, which are involved with lipodystrophy and/or diabetes: Aegerion/Amryt Pharmaceuticals, Novo-Nordisk, and Rhythm Pharmaceuticals. SM received travel funds from the following company, which was involved with lipodystrophy: Amryt Pharmaceuticals. FS has worked as a consultant, participated in studies, and/or received travel funds from the following companies, which are involved with lipodystrophy and/or diabetes: Aegerion/Amryt, Novo Nordisk, Lilly, Bruno Pharma, and Pfizer. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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