The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers

Author:

Caterino Marianna12345,Chandler Randy J.678910,Sloan Jennifer L.678910,Dorko Kenneth1112131415,Cusmano-Ozog Kristina16171815,Ingenito Laura1945,Strom Stephen C.2021222324,Imperlini Esther1945,Scolamiero Emanuela1945,Venditti Charles P.678910,Ruoppolo Margherita12345

Affiliation:

1. Dipartimento di Medicina Molecolare e Biotecnologie Mediche

2. Università degli Studi di Napoli

3. “Federico II”

4. Naples

5. Italy

6. Organic Acid Research Section

7. Genetics and Molecular Biology Branch

8. National Human Genome Research Institute

9. National Institute of Health

10. Bethesda MD 2092

11. Department of Pharmacology

12. Toxicology and Therapeutics

13. University of Kansas Medical Center

14. Kansas City

15. USA

16. Division Genetics and Metabolism

17. Children’s National Medical Center

18. Washington DC

19. CEINGE Biotecnologie Avanzate

20. Department of Laboratory Medicine

21. Division of Pathology

22. Karolinska Institutet

23. Stockholm

24. Sweden

Abstract

Hepatic proteomics of methylmalonic acidemia (MMA).

Publisher

Royal Society of Chemistry (RSC)

Subject

Molecular Biology,Biotechnology

Reference28 articles.

1. W. A. Fenton , R. A.Gravel and D. S.Rosenblatt, in The Metabolic and Molecular Bases of Inherited Disease, ed. C. R. Scriver, W. S. Sly, B. Childs, A. L. Beaudet, D. Valle and K. W. Kinzler, et al., McGraw-Hill, New York, 8th edn, 2001, pp. 2165–2192

2. Methylmalonic and propionic acidaemias: Management and outcome

3. Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia

4. Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations

5. Long-term follow-up of 77 patients with isolated methylamalonic acidaemia

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