166 related articles for article (PubMed ID: 27144934)
1. Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.
Salle-Teyssières L; Auclair M; Terro F; Nemani M; Elsayed SM; Elsobky E; Lathrop M; Délépine M; Lascols O; Capeau J; Magré J; Vigouroux C
J Clin Endocrinol Metab; 2016 Jul; 101(7):2892-904. PubMed ID: 27144934
[TBL] [Abstract][Full Text] [Related]
2. A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.
Dwianingsih EK; Takeshima Y; Itoh K; Yamauchi Y; Awano H; Malueka RG; Nishida A; Ota M; Yagi M; Matsuo M
Mol Genet Metab; 2010; 101(2-3):233-7. PubMed ID: 20638880
[TBL] [Abstract][Full Text] [Related]
3. Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
Rajab A; Straub V; McCann LJ; Seelow D; Varon R; Barresi R; Schulze A; Lucke B; Lützkendorf S; Karbasiyan M; Bachmann S; Spuler S; Schuelke M
PLoS Genet; 2010 Mar; 6(3):e1000874. PubMed ID: 20300641
[TBL] [Abstract][Full Text] [Related]
4. Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.
Karhan AN; Zammouri J; Auclair M; Capel E; Apaydin FD; Ates F; Verpont MC; Magré J; Fève B; Lascols O; Usta Y; Jéru I; Vigouroux C
Eur J Endocrinol; 2021 Nov; 185(6):841-854. PubMed ID: 34643546
[TBL] [Abstract][Full Text] [Related]
5. A new mutation in the
Mancioppi V; Daffara T; Romanisio M; Ceccarini G; Pelosini C; Santini F; Bellone S; Mellone S; Baricich A; Rabbone I; Aimaretti G; Akinci B; Giordano M; Prodam F
Front Endocrinol (Lausanne); 2023; 14():1212729. PubMed ID: 37501786
[TBL] [Abstract][Full Text] [Related]
6. Interaction of cavin-1/PTRF leucine zipper domain 2 and its congenital generalized lipodystrophy mutant with model membranes.
Mohapatra A; Lokappa SB; Chaudhary N
Biochem Biophys Res Commun; 2020 Jan; 521(3):732-738. PubMed ID: 31706570
[TBL] [Abstract][Full Text] [Related]
7. PTRF-Cavin, a conserved cytoplasmic protein required for caveola formation and function.
Hill MM; Bastiani M; Luetterforst R; Kirkham M; Kirkham A; Nixon SJ; Walser P; Abankwa D; Oorschot VM; Martin S; Hancock JF; Parton RG
Cell; 2008 Jan; 132(1):113-24. PubMed ID: 18191225
[TBL] [Abstract][Full Text] [Related]
8. Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.
Shastry S; Delgado MR; Dirik E; Turkmen M; Agarwal AK; Garg A
Am J Med Genet A; 2010 Sep; 152A(9):2245-53. PubMed ID: 20684003
[TBL] [Abstract][Full Text] [Related]
9. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
Hayashi YK; Matsuda C; Ogawa M; Goto K; Tominaga K; Mitsuhashi S; Park YE; Nonaka I; Hino-Fukuyo N; Haginoya K; Sugano H; Nishino I
J Clin Invest; 2009 Sep; 119(9):2623-33. PubMed ID: 19726876
[TBL] [Abstract][Full Text] [Related]
10. PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis.
Taniguchi T; Maruyama N; Ogata T; Kasahara T; Nakanishi N; Miyagawa K; Naito D; Hamaoka T; Nishi M; Matoba S; Ueyama T
PLoS One; 2016; 11(9):e0162513. PubMed ID: 27612189
[TBL] [Abstract][Full Text] [Related]
11. Cavin-1/PTRF mediates insulin-dependent focal adhesion remodeling and ameliorates high-fat diet-induced inflammatory responses in mice.
Wang H; Pilch PF; Liu L
J Biol Chem; 2019 Jul; 294(27):10544-10552. PubMed ID: 31126986
[TBL] [Abstract][Full Text] [Related]
12. Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.
Ardissone A; Bragato C; Caffi L; Blasevich F; Maestrini S; Bianchi ML; Morandi L; Moroni I; Mora M
BMC Med Genet; 2013 Sep; 14():89. PubMed ID: 24024685
[TBL] [Abstract][Full Text] [Related]
13. Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
Akinci B; Onay H; Demir T; Ozen S; Kayserili H; Akinci G; Nur B; Tuysuz B; Nuri Ozbek M; Gungor A; Yildirim Simsir I; Altay C; Demir L; Simsek E; Atmaca M; Topaloglu H; Bilen H; Atmaca H; Atik T; Cavdar U; Altunoglu U; Aslanger A; Mihci E; Secil M; Saygili F; Comlekci A; Garg A
J Clin Endocrinol Metab; 2016 Jul; 101(7):2759-67. PubMed ID: 27144933
[TBL] [Abstract][Full Text] [Related]
14. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.
Kim CA; Delépine M; Boutet E; El Mourabit H; Le Lay S; Meier M; Nemani M; Bridel E; Leite CC; Bertola DR; Semple RK; O'Rahilly S; Dugail I; Capeau J; Lathrop M; Magré J
J Clin Endocrinol Metab; 2008 Apr; 93(4):1129-34. PubMed ID: 18211975
[TBL] [Abstract][Full Text] [Related]
15. Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy.
Han B; Copeland CA; Kawano Y; Rosenzweig EB; Austin ED; Shahmirzadi L; Tang S; Raghunathan K; Chung WK; Kenworthy AK
Traffic; 2016 Dec; 17(12):1297-1312. PubMed ID: 27717241
[TBL] [Abstract][Full Text] [Related]
16. Impaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations.
Mori E; Fujikura J; Noguchi M; Nakao K; Matsubara M; Sone M; Taura D; Kusakabe T; Ebihara K; Tanaka T; Hosoda K; Takahashi K; Asaka I; Inagaki N; Nakao K
Metabolism; 2016 Apr; 65(4):543-56. PubMed ID: 26975546
[TBL] [Abstract][Full Text] [Related]
17. IGF-IR internalizes with Caveolin-1 and PTRF/Cavin in HaCat cells.
Salani B; Passalacqua M; Maffioli S; Briatore L; Hamoudane M; Contini P; Cordera R; Maggi D
PLoS One; 2010 Nov; 5(11):e14157. PubMed ID: 21152401
[TBL] [Abstract][Full Text] [Related]
18. PTRF-cavin-1 expression decreases the migration of PC3 prostate cancer cells: role of matrix metalloprotease 9.
Aung CS; Hill MM; Bastiani M; Parton RG; Parat MO
Eur J Cell Biol; 2011; 90(2-3):136-42. PubMed ID: 20732728
[TBL] [Abstract][Full Text] [Related]
19. Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood.
Murakami N; Hayashi YK; Oto Y; Shiraishi M; Itabashi H; Kudo K; Nishino I; Nonaka I; Nagai T
Neuromuscul Disord; 2013 May; 23(5):441-4. PubMed ID: 23489663
[TBL] [Abstract][Full Text] [Related]
20. Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.
Akinci G; Topaloglu H; Akinci B; Onay H; Karadeniz C; Ergul Y; Demir T; Ozcan EE; Altay C; Atik T; Garg A
Eur J Med Genet; 2016 Jun; 59(6-7):320-4. PubMed ID: 27167729
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]