Spinocerebellar ataxias due to mitochondrial defects

Neurochemistry International

Volumn 40, Issue 6, 2002, Pages 553-557

  Kaplan, Jerry ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Anemia; Friedreich ataxia; Mitochondria; Spinocerebellar ataxia

Indexed keywords

ALPHA TOCOPHEROL; CARRIER PROTEIN; FRATAXIN; IRON SULFUR PROTEIN; TOCOPHEROL TRANSFER PROTEIN; UNCLASSIFIED DRUG;

ALPHA TOCOPHEROL DEFICIENCY; ARTICLE; BIOCHEMISTRY; BRAIN MITOCHONDRION; CLINICAL FEATURE; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FRIEDREICH ATAXIA; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC CONSERVATION; HUMAN; HYPOTHESIS; IRON METABOLISM; MITOCHONDRIAL RESPIRATION; NONHUMAN; OXIDATIVE PHOSPHORYLATION; OXIDATIVE STRESS; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SIDEROBLASTIC ANEMIA; SPECIES DIVERSITY; SPINOCEREBELLAR DEGENERATION; VITAMIN METABOLISM; X CHROMOSOME LINKAGE; YEAST;

ANIMALS; CEREBELLAR ATAXIA; FRIEDREICH ATAXIA; HUMANS; MITOCHONDRIA; VITAMIN E DEFICIENCY;

ATAXIA;

EID: 0036176614     PISSN: 01970186     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0197-0186(01)00127-9     Document Type: Article

References (37)

1. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
2. Regulation of mitochondrial iron accumulation by YFH1 P, a putative homolog of frataxin
3. Human ABC7 transporter: Gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation
4. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
5. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
6. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
7. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
8. Ataxia with isolated vitamin E deficiency: Heterogeneity of mutations and phenotypic variability in a large number of families
9. CCC1 suppresses mitochondrial damage in the yeast model of Friedreich's ataxia by limiting mitochondrial iron accumulation
10. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations
11. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
12. Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast ATM1p
13. Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia
14. Friedreich ataxia: An overview
15. Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain
16. The ABC transporter ATM1p is required for mitochondrial iron homeostasis
17. The mitochondrial proteins ATM1p and NFS1p are essential for biogenesis of cytosolic Fe/S proteins
18. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
19. The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases
20. An ABC transporter in the mitochondrial inner membrane is required for normal growth of yeast
21. Maturation of cellular Fe-S proteins: An essential function of mitochondria
22. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia
23. Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia
24. MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis
25. Hereditary sideroblastic anemia and ataxia: An X linked recessive disorder
26. Recent advances in the molecular pathogenesis of Friedreich ataxia
27. X-linked sideroblastic anemia and ataxia: Linkage to phosphoglycerate kinase at Xql3
28. The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle
29. Frataxin activates mitochondrial energy conversion and oxidative phosphorylation
30. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
31. Sticky DNA: Self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia
32. A mutation in a mitochondrial ABC transporter results in mitochondrial dysfunction through oxidative damage of mitochondrial DNA, Molecular
33. Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia
34. Myopathy in vitamin E deficient rats: Muscle fibre necrosis associated with disturbances of mitochondrial function
35. Increased iron in the dentate nucleus of patients with Friedrich's ataxia
36. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue
37. The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis