REFERENCES

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* An asterisk denotes an unpublished observation.

PCCA Mutations

Campeau E, Dupuis L, Leclerc D, Gravel RA (1999a) Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene. Hum Mol Genet 8, 107-113 [MEDLINE]

Campeau E, Dupuis L, Leon-Del-Rio A, Gravel R (1999b) Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia. Mol Genet Metab 67(1), 11-22   [MEDLINE]

Campeau E, Desviat LR, Leclerc D, Perez B, Ugarte M, Gravel RA. (2001) Structure of the pcca gene and distribution of mutations causing propionic acidemia. Mol Genet Metab  Sep-Oct;74(1-2):238-47 [MEDLINE]

Desviat LR, Campeau E, Leclerc D, Perez B, Ugarte M, Scherer S, Gravel RA. (2001) Structure of the PCCA gene and identification of novel mutations in propionic acidemia. J Inherit Metab Dis 24 (Suppl.1), p56 [MEDLINE not available]

Heptinstall LE, Gillaspy EE, Loftus HM, Till J, Walter JH, Wraith JE, Besley GTN (1998) Mutation analysis in propionic acidaemia J Inherit Metab Dis 21 (Suppl.2), p79 [MEDLINE not available]

Kim SN, Ryu KH, Lee EH, Kim JS, Hahn SH (2002) Molecular analysis of PCCB gene in Korean patients with propionic acidemia. Mol Genet Metab Nov;77(3):209-16 [MEDLINE]

Ohura T, Narisawa K, Tada K, Iinuma K (1999a) An 84 bp insertion found in a propionic acidaemia patient is not a
disease-causing mutation but a product of cryptic mRNA J Inherit Metab Dis 22, 676-677 [MEDLINE]

Ohura T, Narisawa K, Iinuma K(1999b) Mutation analysis of the propionyl-CoA carboxylase alpha-subunit gene in
four Japanese patients with propionic acidaemia J Inherit Metab Dis 7, 851-852 [MEDLINE]

Perez B, Desviat LR, Rodriguez-Pombo P, Clavero S, Navarrete R, Perez-Cerda C, Ugarte M. (2003) Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. Mol Genet Metab 2003 Jan; 78(1):59-67 [MEDLINE]

Raby RB, Ward JC, Herrod HG (1994) Propionic academia and immunodeficiency. J Inherit Metab Dis 17: 250-251 [MEDLINE]

Richard E, Desviat LR, Perez B, Perez-Cerda C, Ugarte M   (1997) Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients. Hum Genet 101(1), 93-96 [MEDLINE]

Richard E, Desviat LR, Perez B, Perez-Cerda C, Ugarte M (1999) Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein. Biochim Biophys Acta 1453(3), 351-358 [MEDLINE]

Schlenzig JS, Poggi-Travert F, Laurent J, Rabier D, Jan D, Wendel U, Sewell AC, Revillon Y, Kamoun P, Saudubray JM (1995) Liver transplantation in two cases of propionic  acidemia. J Inherit Metab Dis. 18: 448-461[MEDLINE]

Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Yamaguchi S, Takahashi Y, Nishikubo T, Kawaguchi C, Yoshioka A, Kimura T, Hayasaka K, Kohno Y, Iinuma K, Ohura T. (2004) Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. Mol Genet Metab. 81(4):335-42. [MEDLINE]

 

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PCCB Mutations

Chloupková M, Ravn K, Schwartz M, Kraus JP (2000) Changes in the carboxyl terminus of the b subunit of human propionyl CoA carboxylase affect the oligomer assembly and catalysis: Expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli. Mol Genet Metab. 71: 623-632 [MEDLINE ]

Chloupkova M, Maclean KN, Alkhateeb A, Kraus JP. (2002) Propionic acidemia: Analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli. Hum Mutat. 19(6):629-40. [MEDLINE]

Gravel RA, Akerman BR, Lamhonwah AM, Loyer M, Leon-del-Rio A, Italiano I (1994) Mutations participating in interallelic complementation in propionic acidemia. Am J Hum Genet 55, 51-58 [MEDLINE]

Heptinstall LE, Gillaspy EE, Loftus HM, Till J, Walter JH, Wraith JE, Besley GTN (1998) Mutation analysis in propionic acidaemia JIMD 21 (Suppl.2), p79 [MEDLINE not available]

Hoenicka J, Rodriguez-Pombo P, Perez-Cerda C, Muro S, Richard E, Ugarte M (1998) New frequent mutation in the PCCB gene in Spanish propionic acidemia patients. Hum Mutat Suppl 1(6), S234-S236 [MEDLINE]

Kelson TL, Ohura T, Kraus JP. (1996)  Chaperonin-mediated assembly of wild-type and mutant subunits of human propionyl-CoA carboxylase expressed in Escherichia coli. Hum Mol Genet. 5(3):331-7. [MEDLINE].

Lamhonwah AM, Troxel CE, Schuster S, Gravel RA (1990) Two distinct mutations at the same site in the PCCB gene in propionic acidemia. Genomics 8, 249-254 [MEDLINE]

Muro S, Rodriguez-Pombo P, Perez B, Perez-Cerda C, Desviat LR, Sperl W, Skladal D, Sass JO, Ugarte M (1999) Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Hum Mutat 14(1), 89-90 [MEDLINE]

Muro S, Perez B, Desviat LR, Rodriguez-Pombo P, Perez-Cerda C, Clavero S, Ugarte M (2001) Effect of PCCB Gene Mutations on the Heteromeric and Homomeric Assembly of Propionyl-CoA Carboxylase. Mol Genet Metab 74(4), 476-83 [MEDLINE]

Ohura T, Narisawa K, Tada K (1993a) Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients. J Inher Metab Dis 16, 863-867 [MEDLINE]

Ohura T, Ogasawara M, Ikeda H, Narisawa K, Tada K (1993b) The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele. Hum Genet 92, 397-402 [MEDLINE]

Ohura T, Narisawa K, Tada K, Iinuma K (1995) A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene. Hum Genet 95, 707-708 [MEDLINE]

Pérez-Cerdá C, Rodriguez-Pombo P, Ugarte M (1994) Identification of the insertion / deletion mutation in Spanish ß-propionyl-coA carboxylase deficient patients. J Inherit Metab. Dis. 17: 661-663 [MEDLINE]

Ravn K, Chloupkova M, Christensen E, Brandt NJ, Simonsen H, Kraus JP, Nielsen IM, Skovby F, Schwartz M (2000) High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the beta-Subunit of Propionyl CoA Carboxylase. Am J Hum Genet 2000 67, 203-206 [MEDLINE]

Rodriguez-Pombo P, Perez B, Muro S, Perez-Cerda C, Desviat LR, Gibson KM, Ugarte M (2000) New mutations detected in USA propionic acidemia families. J Inher Metab Dis 23, p92 (183-P) [MEDLINE not available]

Rodriguez-Pombo P, Hoenicka J, Muro S, Perez B, Perez-Cerda C, Richard E, Desviat LR, Ugarte M (1998) Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. Am J Hum Genet 63, 360-369 [MEDLINE]

Tahara T, Kraus JP, Rosenberg LE (1990) An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia. Proc Natl Acad Sci USA 87, 1372-1376 [MEDLINE]

Tahara T, Kraus JP, Ohura T, Rosenberg LE, Fenton WA (1993) Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia. J Inher Metab Dis 16, 353-360 [MEDLINE]

Back to the List of PCCB Mutations

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