Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 131

3.

Four novel PEPD alleles causing prolidase deficiency.

Ledoux P, Scriver C, Hechtman P.

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

4.

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
5.

Molecular basis of prolidase (peptidase D) deficiency.

Endo F, Matsuda I.

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

PMID:
1943683
6.

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.

7.

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
8.

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
10.

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
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 nonsense mutation of PEPD in four Amish children with prolidase deficiency.

Wang H, Kurien BT, Lundgren D, Patel NC, Kaufman KM, Miller DL, Porter AC, D'Souza A, Nye L, Tumbush J, Hupertz V, Kerr DS, Kurono S, Matsumoto H, Scofield RH.

Am J Med Genet A. 2006 Mar 15;140(6):580-5.

PMID:
16470701
13.
14.

Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion.

Singer L, Whitehead WT, Akama H, Katz Y, Fishelson Z, Wetsel RA.

J Biol Chem. 1994 Nov 11;269(45):28494-9.

15.

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
16.

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.

17.

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
18.

Human recombinant prolidase from eukaryotic and prokaryotic sources. Expression, purification, characterization and long-term stability studies.

Lupi A, Della Torre S, Campari E, Tenni R, Cetta G, Rossi A, Forlino A.

FEBS J. 2006 Dec;273(23):5466-78. Epub 2006 Nov 1.

19.
20.

Primary structure and gene localization of human prolidase.

Endo F, Tanoue A, Nakai H, Hata A, Indo Y, Titani K, Matsuda I.

J Biol Chem. 1989 Mar 15;264(8):4476-81.

Supplemental Content

Support Center