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Items: 1 to 20 of 138

3.

Molecular basis of prolidase (peptidase D) deficiency.

Endo F, Matsuda I.

Mol Biol Med. 1991 Feb;8(1):117-27. Review.

PMID:
1943683
4.

Four novel PEPD alleles causing prolidase deficiency.

Ledoux P, Scriver C, Hechtman P.

Am J Hum Genet. 1994 Jun;54(6):1014-21.

5.

Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes.

Endo F, Tanoue A, Kitano A, Arata J, Danks DM, Lapière CM, Sei Y, Wadman SK, Matsuda I.

J Clin Invest. 1990 Jan;85(1):162-9.

6.

A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency.

Kikuchi S, Tanoue A, Endo F, Wakasugi S, Matsuo N, Tsujimoto G.

J Hum Genet. 2000;45(2):102-4.

PMID:
10721675
7.

Expression and molecular analysis of mutations in prolidase deficiency.

Ledoux P, Scriver CR, Hechtman P.

Am J Hum Genet. 1996 Nov;59(5):1035-9.

9.

Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.

Lupi A, De Riso A, Della Torre S, Rossi A, Campari E, Vilarinho L, Cetta G, Forlino A.

J Hum Genet. 2004;49(9):500-6. Epub 2004 Aug 11.

PMID:
15309682
11.

Amelioration of prolidase deficiency in fibroblasts using adenovirus mediated gene transfer.

Ikeda K, Tohyama J, Tsujino S, Sato K, Oono T, Arata J, Endo F, Sakuragawa N.

Jpn J Hum Genet. 1997 Sep;42(3):401-8.

PMID:
12503186
12.

A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome.

Hershkovitz T, Hassoun G, Indelman M, Shlush LI, Bergman R, Pollack S, Sprecher E.

Clin Exp Dermatol. 2006 May;31(3):435-40.

PMID:
16681595
13.

Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations.

Lupi A, Tenni R, Rossi A, Cetta G, Forlino A.

Amino Acids. 2008 Nov;35(4):739-52. doi: 10.1007/s00726-008-0055-4. Epub 2008 Mar 14. Review.

PMID:
18340504
14.
15.

Prolidase deficiency: biochemical classification of alleles.

Boright AP, Scriver CR, Lancaster GA, Choy F.

Am J Hum Genet. 1989 May;44(5):731-40.

16.

Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.

Forlino A, Lupi A, Vaghi P, Icaro Cornaglia A, Calligaro A, Campari E, Cetta G.

Hum Genet. 2002 Oct;111(4-5):314-22. Epub 2002 Aug 14.

PMID:
12384772
17.

The role of prolidase as an enzyme participating in the metabolism of collagen.

Pałka JA.

Rocz Akad Med Bialymst. 1996;41(2):149-60.

PMID:
9020526
18.
19.

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.

Falik-Zaccai TC, Khayat M, Luder A, Frenkel P, Magen D, Brik R, Gershoni-Baruch R, Mandel H.

Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):46-56. doi: 10.1002/ajmg.b.30945.

PMID:
19308961
20.

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