Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 96

1.

FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M, Zollo M, Borsani G, Ballabio A, Renieri A.

Genomics. 1998 Feb 1;47(3):350-8.

PMID:
9480748
2.

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.

Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A.

Nat Genet. 2002 Apr;30(4):436-40. Epub 2002 Mar 11.

PMID:
11889465
3.
4.

Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3.

Vitelli F, Meloni I, Fineschi S, Favara F, Tiziana Storlazzi C, Rocchi M, Renieri A.

Cytogenet Cell Genet. 2000;88(3-4):259-63.

PMID:
10828604
5.

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

Jonsson JJ, Renieri A, Gallagher PG, Kashtan CE, Cherniske EM, Bruttini M, Piccini M, Vitelli F, Ballabio A, Pober BR.

J Med Genet. 1998 Apr;35(4):273-8.

6.

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.

Longo I, Frints SG, Fryns JP, Meloni I, Pescucci C, Ariani F, Borghgraef M, Raynaud M, Marynen P, Schwartz C, Renieri A, Froyen G.

J Med Genet. 2003 Jan;40(1):11-7.

7.

Very long-chain acyl-CoA synthetases. Human "bubblegum" represents a new family of proteins capable of activating very long-chain fatty acids.

Steinberg SJ, Morgenthaler J, Heinzer AK, Smith KD, Watkins PA.

J Biol Chem. 2000 Nov 10;275(45):35162-9.

8.

Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.

Gazou A, Riess A, Grasshoff U, Schäferhoff K, Bonin M, Jauch A, Riess O, Tzschach A.

Am J Med Genet A. 2013 Apr;161A(4):860-4. doi: 10.1002/ajmg.a.35778. Epub 2013 Mar 12.

PMID:
23520119
9.

Cloning, expression, and chromosomal localization of human long-chain fatty acid-CoA ligase 4 (FACL4).

Cao Y, Traer E, Zimmerman GA, McIntyre TM, Prescott SM.

Genomics. 1998 Apr 15;49(2):327-30.

PMID:
9598324
10.

X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.

Basel-Vanagaite L, Pillar N, Isakov O, Smirin-Yosef P, Lagovsky I, Orenstein N, Salmon-Divon M, Tamary H, Zaft T, Bazak L, Meyerovitch J, Pelli T, Botchan S, Farberov L, Weissglas-Volkov D, Shomron N.

Gene. 2017 Mar 30;606:47-52. doi: 10.1016/j.gene.2017.01.001. Epub 2017 Jan 9.

PMID:
28089922
12.

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).

Meloni I, Vitelli F, Pucci L, Lowry RB, Tonlorenzi R, Rossi E, Ventura M, Rizzoni G, Kashtan CE, Pober B, Renieri A.

J Med Genet. 2002 May;39(5):359-65. No abstract available.

13.

Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.

Rodriguez JD, Bhat SS, Meloni I, Ladd S, Leslie ND, Doyne EO, Renieri A, Dupont BR, Stevenson RE, Schwartz CE, Srivastava AK.

Am J Med Genet A. 2010 Mar;152A(3):713-7. doi: 10.1002/ajmg.a.33208.

PMID:
20186809
14.
15.

Human long-chain acyl-CoA synthetase: structure and chromosomal location.

Abe T, Fujino T, Fukuyama R, Minoshima S, Shimizu N, Toh H, Suzuki H, Yamamoto T.

J Biochem. 1992 Jan;111(1):123-8.

16.

Structure and regulation of rat long-chain acyl-CoA synthetase.

Suzuki H, Kawarabayasi Y, Kondo J, Abe T, Nishikawa K, Kimura S, Hashimoto T, Yamamoto T.

J Biol Chem. 1990 May 25;265(15):8681-5.

17.

Mouse fatty acid transport protein 4 (FATP4): characterization of the gene and functional assessment as a very long chain acyl-CoA synthetase.

Herrmann T, Buchkremer F, Gosch I, Hall AM, Bernlohr DA, Stremmel W.

Gene. 2001 May 30;270(1-2):31-40.

PMID:
11404000
18.
19.

Molecular characterization and expression of rat acyl-CoA synthetase 3.

Fujino T, Kang MJ, Suzuki H, Iijima H, Yamamoto T.

J Biol Chem. 1996 Jul 12;271(28):16748-52.

20.

Genomic organization and transcription units of the human acyl-CoA synthetase 3 gene.

Minekura H, Kang MJ, Inagaki Y, Suzuki H, Sato H, Fujino T, Yamamoto TT.

Gene. 2001 Oct 31;278(1-2):185-92.

PMID:
11707336

Supplemental Content

Support Center