Literature DB >> 34935636

Caveolar dysfunction and lipodystrophies.

Nivedita Patni1, Robert A Hegele2, Abhimanyu Garg3.   

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Year:  2022        PMID： 34935636      PMCID： PMC9285858          DOI： 10.1530/EJE-21-1243

Source DB:  PubMed          Journal:  Eur J Endocrinol        ISSN： 0804-4643            Impact factor:   6.558


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  13 in total

Review 1.  Caveolae: Formation, dynamics, and function.

Authors:  Robert G Parton; Kerrie-Ann McMahon; Yeping Wu
Journal:  Curr Opin Cell Biol       Date:  2020-03-06       Impact factor: 8.382

2.  Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

Authors:  Abhimanyu Garg; Martin Kircher; Miguel Del Campo; R Stephen Amato; Anil K Agarwal
Journal:  Am J Med Genet A       Date:  2015-04-21       Impact factor: 2.802

3.  Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations.

Authors:  Nivedita Patni; Frank Vuitch; Abhimanyu Garg
Journal:  J Clin Endocrinol Metab       Date:  2019-03-01       Impact factor: 5.958

4.  Retinal Caveolin-1 Modulates Neuroprotective Signaling.

Authors:  Alaina Reagan; Xiaowu Gu; Stefanie M Hauck; John D Ash; Guangwen Cao; Timothy C Thompson; Michael H Elliott
Journal:  Adv Exp Med Biol       Date:  2016       Impact factor: 2.622

5.  Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.

Authors:  Asuman Nur Karhan; Jamila Zammouri; Martine Auclair; Emilie Capel; Feramuz Demir Apaydin; Fehmi Ates; Marie-Christine Verpont; Jocelyne Magré; Bruno Fève; Olivier Lascols; Yusuf Usta; Isabelle Jéru; Corinne Vigouroux
Journal:  Eur J Endocrinol       Date:  2021-11-10       Impact factor: 6.664

6.  Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

Authors:  C A Kim; Marc Delépine; Emilie Boutet; Haquima El Mourabit; Soazig Le Lay; Muriel Meier; Mona Nemani; Etienne Bridel; Claudia C Leite; Debora R Bertola; Robert K Semple; Stephen O'Rahilly; Isabelle Dugail; Jacqueline Capeau; Mark Lathrop; Jocelyne Magré
Journal:  J Clin Endocrinol Metab       Date:  2008-01-22       Impact factor: 5.958

Review 7.  Congenital generalized lipodystrophies--new insights into metabolic dysfunction.

Authors:  Nivedita Patni; Abhimanyu Garg
Journal:  Nat Rev Endocrinol       Date:  2015-08-04       Impact factor: 43.330

8.  Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.

Authors:  Yukiko K Hayashi; Chie Matsuda; Megumu Ogawa; Kanako Goto; Kayo Tominaga; Satomi Mitsuhashi; Young-Eun Park; Ikuya Nonaka; Naomi Hino-Fukuyo; Kazuhiro Haginoya; Hisashi Sugano; Ichizo Nishino
Journal:  J Clin Invest       Date:  2009-08-10       Impact factor: 14.808

9.  Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.

Authors:  Henian Cao; Lindsay Alston; Jennifer Ruschman; Robert A Hegele
Journal:  Lipids Health Dis       Date:  2008-01-31       Impact factor: 3.876

10.  PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis.

Authors:  Takuya Taniguchi; Naoki Maruyama; Takehiro Ogata; Takeru Kasahara; Naohiko Nakanishi; Kotaro Miyagawa; Daisuke Naito; Tetsuro Hamaoka; Masahiro Nishi; Satoaki Matoba; Tomomi Ueyama
Journal:  PLoS One       Date:  2016-09-09       Impact factor: 3.240
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  1 in total

Review 1.  Lipodystrophy for the Diabetologist-What to Look For.

Authors:  Nivedita Patni; Abhimanyu Garg
Journal:  Curr Diab Rep       Date:  2022-07-11       Impact factor: 5.430
  1 in total

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