Propionyl CoA Carboxylase beta Polypeptide Proteine (PCCB)

Human Propionyl CoA Carboxylase beta Polypeptide (PCCB) Interaktionspartner

1. Recurrent lactic acid elevations were present in six out of the eight patients. Five of the eight patients were diagnosed with Autism Spectrum Disorder, four of them had pathogenic variants in PCCB

2. we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants

3. The majority of patients had mutations in the PCCA gene (18/25). A total of 26 mutations were noted: 20 in the PCCA gene and 6 in PCCB gene. Seventeen mutations were novel (14 in PCCA and 3 in PCCB).

4. Ten propionic acidemia mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB gene

5. The c.-4156_183+3713del mutation is the first known large deletion that affects the PCCB gene functions.

6. cryo-electron microscopy (cryo-EM) reconstruction at 15-A resolution

7. mutations affect homomeric and heteromeric assembly of Propionyl-CoA Carboxylase

8. Structure-function analysis of a range of isolated PCCB subunit mutants has elucidated the complex relationship between genotype and phenotype in propionic acidemia.

9. Work showed 15 novel PCCB gene mutations and phenotype-genotype correlations for the prediction of the metabolic outcome and for the implementation of treatments tailored to each PA patient.

10. pathogenicity of R67S, R165Q and G112D mutations in PCCB gene in propionic acidemia

11. analysis of PCCA and PCCB mutations in propionic acidemia