PCC REFERENCES

 

fold.gif (119 bytes) KRAUSLAB MAIN PAGE
images/fold.gif (119 bytes) CBS 
images/fold.gif (119 bytes) PCC
     doc.gif (130 bytes) PCCA mutations
     doc.gif (130 bytes) PCCA map
     doc.gif (130 bytes) PCCB mutations
     doc.gif (130 bytes) PCCB map
     doc.gif (130 bytes) PCC references
     doc.gif (130 bytes) E.coli expression
     doc.gif (130 bytes) Mutation submission
     doc.gif (130 bytes) About PCC
     doc.gif (130 bytes) Other PCC pages
     doc.gif (130 bytes) PCC Protein
images/fold.gif (119 bytes) DIAGNOSTICS 
images/fold.gif (119 bytes) SEARCH
 

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]

Desviat LR, Clavero S, Perez-Cerda C, Navarrete R, Ugarte M, Perez B (2006) New splicing mutations in propionic academia. J Hum Genet 51, 992-997

Desviat LR, Sanchez-Alcudia R, Perez B, Perez-Cerda C, Navarrete R, Vijzelaar R, Ugarte M (2009) High frequency of large genomic deletions in the PCCA gene causing propionic academia. Mol Genet Metab 96, 171-176

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]

Hu YH, Han LS, Ye J, Qiu WJ, Xhang YF, Yang YL, Liu L, Ma HW, Gao XL, Gu XF, (2008) Gene mutation analysis in patients with propionic acidemia. Zhonghua Er Ke Za Zhi 46 (6), 416-420

Kaya N, Al-Owain M, AlBakheet A, Colak D, Al-Odaib A, Imtiaz F, Coskun S, Al-Sayed M, Al-Hassnan Z, Al-Zaidan H, Meyer B, Ozand P, (2008) Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia. Euro J of Med Genet 51, 558-565

Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Mullerleile S, de Silva L, Barth M, Walter M, et al (2012). Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis 35(1): 51-63.

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]

Lianou D, Gallego L, Michelakakis H, Perez-Cerda C, Stavrola G, Jakobs C, Ugarte M, (2010) Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient. Clinica Chimica Acta 411, 1388-1389

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]

Ozgul RK, Yucel D, Hismi B, Karaca M, Sivri HS, Coskun T, Tokatli A, Dursun A, (2010) Identification of mutations in the PCCA and PCCB genes causing propionic acidemia in Turkish patients. J Inherit Metab Dis 33 Suppl 1, 45

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]

Perez B, Desviat LR, Perez-Cerda C, Navarrete R, Ugarte M (2005) Genetic analysis of propionic academia patients from middle east and central asian regions. J Inherit Metab Dis 28 Suppl 1, 80

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]

Sanchez-Alcudia R, Perez B, Ugarte M, Desviat LR (2012). Feasibility of nonsense mutations readthrough as a novel therapeutical approach in propionic acidemia. Hum Mutat in press.

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]

 


PCCB Mutations

Brosch S, Rauffeisen A, Baur M, Michels L, Trefx FK, Pfister M (2007). Propionazidamie und schallempfindungs-schwerhorigkeit gibt es eine molekulargenetische basis. HNO 56(1): 37-42.

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]

Desviat LR, Clavero S, Perez-Cerda C, Navarrete R, Ugarte M, Perez B (2006) New splicing mutations in propionic academia. J Hum Genet 51, 992-997

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]

Hu YH, Han LS, Ye J, Qiu WJ, Xhang YF, Yang YL, Liu L, Ma HW, Gao XL, Gu XF, (2008) Gene mutation analysis in patients with propionic acidemia. Zhonghua Er Ke Za Zhi 46 (6), 416-420

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].

Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Mullerleile S, de Silva L, Barth M, Walter M, et al (2012). Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis 35(1): 51-63.

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]

Lee TM, Addonizio LJ, Barshop BA, Chung WK, (2009) Unusual presentation of propionic acidemia as isolated cardiomyopathy. J Inherit Metab Dis 32, 297

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]

Oglesbee D, Gunay-Aygun M, Matern D, Tortorelli S, Hahn SH, Rinaldo P, Ward C, Moran R (2006) A mild amish variant of propionic acidimia is detectable by newborn screening with tandem mass spectrometry. J Inherit Metab Dis 29 Suppl 1, 20

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]

Ozgul RK, Yucel D, Hismi B, Karaca M, Sivri HS, Coskun T, Tokatli A, Dursun A, (2010) Identification of mutations in the PCCA and PCCB genes causing propionic acidemia in Turkish patients. J Inherit Metab Dis 33 Suppl 1, 45

Perez B, Desviat LR, Perez-Cerda C, Navarrete R, Ugarte M (2005) Genetic analysis of propionic academia patients from middle east and central asian regions. J Inherit Metab Dis 28 Suppl 1, 80

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]

Sanchez-Alcudia R, Perez B, Ugarte M, Desviat LR (2012). Feasibility of nonsense mutations readthrough as a novel therapeutical approach in propionic acidemia. Hum Mutat in press.

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]

Yorifuji T, Kawai M, Muroi J, Mamada M, Kurokawa K, Shigematsu Y, Hirano S, Sakura N, Yoshida I, Kuhara T, Endo F, Mitsubuchi H, Nakahata T (2002) Unexpectedly high prevalence of the mild form of propionic academia in Japan: presence of a common mutation and possible clinical implications. Hum Genet 111, 161-165

 * An asterisk denotes an unpublished observation. 

UCD_brand.gif (2130 bytes)