Literature DB >> 10896279

Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: an approach to the determination of the beta-propionyl-CoA carboxylase functional domains.

S Muro1, B Pérez, P Rodríguez-Pombo, L R Desviat, C Pérez-Cerdá, M Ugarte.   

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Year:  2000        PMID: 10896279     DOI: 10.1023/a:1005617420460

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


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  4 in total

Review 1.  Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.

Authors:  M Ugarte; C Pérez-Cerdá; P Rodríguez-Pombo; L R Desviat; B Pérez; E Richard; S Muro; E Campeau; T Ohura; R A Gravel
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

2.  Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.

Authors:  S Muro; C Perez-Cerdá; P Roddríguez-Pombo; B Pérez; P Briones; A Ribes; M Ugarte
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

Review 3.  The two-hybrid system: an assay for protein-protein interactions.

Authors:  S Fields; R Sternglanz
Journal:  Trends Genet       Date:  1994-08       Impact factor: 11.639

4.  Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

Authors:  P Rodríguez-Pombo; J Hoenicka; S Muro; B Pérez; C Pérez-Cerdá; E Richard; L R Desviat; M Ugarte
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

  4 in total
  2 in total

Review 1.  Propionyl-CoA carboxylase - A review.

Authors:  Parith Wongkittichote; Nicholas Ah Mew; Kimberly A Chapman
Journal:  Mol Genet Metab       Date:  2017-10-07       Impact factor: 4.797

2.  Transcarboxylase 12S crystal structure: hexamer assembly and substrate binding to a multienzyme core.

Authors:  Pamela R Hall; Yan-Fei Wang; Rosa E Rivera-Hainaj; Xiaojing Zheng; Marianne Pustai-Carey; Paul R Carey; Vivien C Yee
Journal:  EMBO J       Date:  2003-05-15       Impact factor: 11.598

  2 in total

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