MOHR-TRANEBJAERG SYNDROME

Known as: Deafness (DFN-1) dystonia, mental deficiency and blindness, Deafness dystonia syndrome, DEAFNESS-DYSTONIA-OPTIC ATROPHY SYNDROME 
 
National Institutes of Health

Papers overview

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Review
2009
Review
2009
Most mitochondrial proteins are synthesized on cytosolic ribosomes and must be imported across one or both mitochondrial… (More)
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2006
2006
P-glycoprotein (P-gp; ABCB1) actively transports a broad range of structurally unrelated compounds out of the cell. An important… (More)
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2004
2004
Mutations in the X-linked deafness-dystonia peptide 1 (DDP1) gene cause Mohr-Tranebjaerg syndrome (MTS), a rare form of deafness… (More)
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2003
2003
The human multidrug resistance P-glycoprotein (P-gp, ABCB1) actively extrudes a broad range of potentially cytotoxic compounds… (More)
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Highly Cited
2002
Highly Cited
2002
Mohr-Tranebjaerg syndrome (MTS/DFN-1) or deafness/dystonia syndrome results from a mutation in deafness/dystonia protein 1… (More)
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2001
2001
Sex-linked male deafness and dystonia (Mohr-Tranebjaerg syndrome) arises from mutation of the deafness/dystonia peptide (DDP… (More)
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Highly Cited
2001
Highly Cited
2001
Defining the residues involved in the binding of a substrate provides insight into how the human multidrug resistance P… (More)
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Highly Cited
1999
Highly Cited
1999
The human deafness dystonia syndrome results from the mutation of a protein (DDP) of unknown function. We show now that DDP is a… (More)
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Highly Cited
1996
Highly Cited
1996
In 1960, progressive sensorineural deafness (McKu-sick 304700, DFN-1) was shown to be X-linked based on a description of a large… (More)
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1995
1995
Recently a new tetrazolium was described for the use of monitoring cell viability in culture. This tetrazolium, commonly referred… (More)
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