Biology Reference
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Dolce V, Fiermonte G, Palmieri F (1996) Tissue-specific expression of the two iso-
forms of the mitochondrial phosphate carrier in bovine tissues. FEBS Lett
399:95-98.
El-Schahawi M, deMunain L, Sarrazin AM, Shanske AL, Basirico M, Shanske S,
DiMauro S (1997) Two large Spanish pedigrees with non-syndromic sensorineural
deafness and the mtDNA mutation at nt 1555 in the 12SrRNA gene: Evidence of
heteroplasmy. Neurology 48:453-456.
Estivill X, Govea N, Barcelo A, Perello E, Badenas C, Romero E, Moral L,
Scozzari R, D'Urbano L, Zeviani M, Torroni A (1998) Familial progressive sen-
sorineural deafness is mainly due to the mtDNA A1555G mutation and is
enhanced by treatment with aminoglycosides. Am J Hum Genet 62:27-35.
Fischel-Ghodsian N, Prezant TR, Bu X, Öztas S (1993) Mitochondrial ribosomal
RNA gene mutation associated with aminoglycoside ototoxicity. Am J Otolaryn-
gol 14:399-403.
Fischel-Ghodsian N, Prezant TR, Fournier P, Stewart IA, Maw M (1995) Mitochon-
drial tRNA mutation associated with non-syndromic deafness. Am J Otolaryngol
16:403-408.
Fischel-Ghodsian N, Bykhovskaya Y, Taylor K, Kahen T, Cantor R, Ehrenman K,
Smith R, Keithley E (1997a) Temporal bone analysis of patients with presbycu-
sis reveals high frequency of mitochondrial mutations. Hearing Res 110:147-154.
Fischel-Ghodsian N, Prezant TR, Chaltraw W, Wendt KA, Nelson RA, Arnos KS,
Falk RE (1997b) Mitochondrial gene mutations: A common predisposing factor
in aminoglycoside ototoxicity. Am J Otolaryngol 18:173-178.
Fischel-Ghodsian N (1998a) Mitochondrial genetics and hearing loss—the missing
link between genotype and phenotype. Proc Soc Exp Biol and Med 218:1-6.
Fischel-Ghodsian N (1998b) Mitochondrial mutations and hearing loss—paradigm
for mitochondrial genetics. Am J Hum Genet 62:15-19.
Flierl A, Reichmann H, Seibel P (1997) Pathophysiology of the MELAS 3243 tran-
sition mutation. J Biol Chem 272:27189-27196.
Friedman RA, Bykhovskaya Y, Bradley R, Fallis-Cunningham R, Paradies N, Smith
RJ, Grodin J, Pensak ML, Fischel-Ghodsian N (1999) Maternal inherited deaf-
ness due to a novel genetic defect. Am J Med Genet 84:369-372.
Gardner JC, Goliath R, Viljoen D, Sellars S, Cortopassi G, Hutchin T, Greenberg J,
Beighton P (1997) Familial streptomycin ototoxicity in a South African family: A
mitochondrial disorder. J Med Genet 34:904-906.
Gravel M, Melancon P, Brakier-Gingras L (1987) Cross-linking of streptomycin to
the 16S ribosomal RNA of Escherichia coli. Biochemistry 26:6227-6232.
Guan M, Fischel-Ghodsian N, Attardi G (1996) Biochemical evidence for nuclear
gene involvement in phenotype of non-syndromic deafness associated with mito-
chondrial 12S rRNA mutation. Hum Molec Genet 5:963-972.
Guan M, Enriquez JA, Fischel-Ghodsian N, Puranam RS, Lin C, Maw M, and Attardi
G (1998) Deafness-associated mtDNA 7445 mutation has pleiotropic effects,
affecting tRNASer(UCN) precursor processing and expression of NADH dehy-
drogenase ND6 subunit gene. Molec Cell Biol 18:5868-5879.
Hamasaki K, Rando RR (1997) Specific binding of aminoglycosides to a human
rRNA construct based on a DNA polymorphism which causes aminoglycoside-
induced deafness. Biochem 36:12323-12328.
Harrison TJ, Boles RG, Johnson DR, LeBlond C, Wong LJ (1997) Macular pattern
retinal dystrophy, adult-onset diabetes, and deafness: A family study of A3243G
mutation mitochondrial heteroplasmy. Am J Ophthalmol 124:217-221.
