Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriale Methylmalonyl-CoA-Mutase

Das MUT-Gen kodiert ein mitochondriales Protein, welches im Cobalamin-Stoffwechsel beteiligt ist. Mutationen verursachen die autosomal rezessiven Methylmalonazidurie aufgrund des mitochondrialen Methylmalonyl-CoA-Mutase-Mangels

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Methylmalonazidurie Typ mut
MUT

Referenzen:

1.

Crane AM et. al. (1992) Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.

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2.

Crane AM et. al. (1992) Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.

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3.

Raff ML et. al. (1991) Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.

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4.

Ledley FD et. al. (1990) Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.

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5.

Ledley FD et. al. (1990) Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.

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6.

Sertić J et. al. (1990) Mapping of the L-methylmalonyl-CoA mutase gene to mouse chromosome 17.

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7.

Threadgill DW et. al. (1990) Localization of the murine methylmalonyl CoA mutase (Mut) locus on chromosome 17 by in situ hybridization.

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8.

None (1990) Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.

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9.

Jansen R et. al. (1990) Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.

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10.

Nham SU et. al. (1990) Structure of the human methylmalonyl-CoA mutase (MUT) locus.

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11.

Blanché H et. al. (1991) A centromere-based genetic map of the short arm of human chromosome 6.

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12.

Ledley FD et. al. (1988) Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines.

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13.

Jansen R et. al. (1989) Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction.

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14.

Fenton WA et. al. (1987) Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.

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15.

Ledley FD et. al. (1988) Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.

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16.

Zoghbi HY et. al. (1988) Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6.

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17.

Qureshi AA et. al. (1994) Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.

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18.

Crane AM et. al. (1994) Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.

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19.

Ogasawara M et. al. (1994) Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia.

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20.

Drennan CL et. al. (1996) Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.

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21.

Ledley FD et. al. (1997) Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.

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22.

Janata J et. al. (1997) Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.

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23.

Adjalla CE et. al. (1998) Seven novel mutations in mut methylmalonic aciduria.

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24.

Berger I et. al. (2001) Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.

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25.

Acquaviva C et. al. (2001) N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.

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26.

Champattanachai V et. al. (2003) Novel mutations in a Thai patient with methylmalonic acidemia.

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27.

Acquaviva C et. al. (2005) Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

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28.

Martínez MA et. al. (2005) Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.

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29.

Worgan LC et. al. (2006) Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.

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30.

Cavicchi C et. al. (2006) Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.

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31.

Takeshima Y et. al. (2006) Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy.

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32.

Rincón A et. al. (2007) Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.

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