Sotgia F - Search Results

1

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C. Zara F, et al. Among authors: sotgia f. Nat Genet. 2006 Oct;38(10):1111-3. doi: 10.1038/ng1870. Epub 2006 Sep 3. Nat Genet. 2006. PMID: 16951682

2

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F. Minetti C, et al. Among authors: sotgia f. Nat Genet. 1998 Apr;18(4):365-8. doi: 10.1038/ng0498-365. Nat Genet. 1998. PMID: 9537420

3

Molecular genetics of the caveolin gene family: implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophy.

Engelman JA, Zhang X, Galbiati F, Volonte D, Sotgia F, Pestell RG, Minetti C, Scherer PE, Okamoto T, Lisanti MP. Engelman JA, et al. Among authors: sotgia f. Am J Hum Genet. 1998 Dec;63(6):1578-87. doi: 10.1086/302172. Am J Hum Genet. 1998. PMID: 9837809 Free PMC article. Review. No abstract available.

4

Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome.

Sotgia F, Minetti C, Lisanti MP. Sotgia F, et al. FEBS Lett. 1999 Jun 11;452(3):177-80. doi: 10.1016/s0014-5793(99)00658-4. FEBS Lett. 1999. PMID: 10386585 Free article.

5

Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy.

Repetto S, Bado M, Broda P, Lucania G, Masetti E, Sotgia F, Carbone I, Pavan A, Bonilla E, Cordone G, Lisanti MP, Minetti C. Repetto S, et al. Among authors: sotgia f. Biochem Biophys Res Commun. 1999 Aug 11;261(3):547-50. doi: 10.1006/bbrc.1999.1055. Biochem Biophys Res Commun. 1999. PMID: 10441463

6

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, Panella A, Zara F, Bricarelli FD, Cordone G, Lisanti MP, Minetti C. Carbone I, et al. Among authors: sotgia f. Neurology. 2000 Mar 28;54(6):1373-6. doi: 10.1212/wnl.54.6.1373. Neurology. 2000. PMID: 10746614

7

Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency.

Minetti C, Bado M, Broda P, Sotgia F, Bruno C, Galbiati F, Volonte D, Lucania G, Pavan A, Bonilla E, Lisanti MP, Cordone G. Minetti C, et al. Among authors: sotgia f. Am J Pathol. 2002 Jan;160(1):265-70. doi: 10.1016/S0002-9440(10)64370-2. Am J Pathol. 2002. PMID: 11786420 Free PMC article.

8

Intracellular retention of glycosylphosphatidyl inositol-linked proteins in caveolin-deficient cells.

Sotgia F, Razani B, Bonuccelli G, Schubert W, Battista M, Lee H, Capozza F, Schubert AL, Minetti C, Buckley JT, Lisanti MP. Sotgia F, et al. Mol Cell Biol. 2002 Jun;22(11):3905-26. doi: 10.1128/MCB.22.11.3905-3926.2002. Mol Cell Biol. 2002. PMID: 11997523 Free PMC article.

9

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.

Merlini L, Carbone I, Capanni C, Sabatelli P, Tortorelli S, Sotgia F, Lisanti MP, Bruno C, Minetti C. Merlini L, et al. Among authors: sotgia f. J Neurol Neurosurg Psychiatry. 2002 Jul;73(1):65-7. doi: 10.1136/jnnp.73.1.65. J Neurol Neurosurg Psychiatry. 2002. PMID: 12082049 Free PMC article.

10

Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.

Sotgia F, Woodman SE, Bonuccelli G, Capozza F, Minetti C, Scherer PE, Lisanti MP. Sotgia F, et al. Am J Physiol Cell Physiol. 2003 Nov;285(5):C1150-60. doi: 10.1152/ajpcell.00166.2003. Epub 2003 Jul 2. Am J Physiol Cell Physiol. 2003. PMID: 12839838 Free article.

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