Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.

Andrea J Deutschmann; Albert Amberger; Claudia Zavadil; Herbert Steinbeisser; Johannes A. Mayr; René Feichtinger; Stephanie Oerum; Wyatt W Yue; Johannes Zschocke

doi:10.1093/hmg/ddu072

Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.

Andrea J Deutschmann
, Albert Amberger
, Claudia Zavadil
, Herbert Steinbeisser
, Johannes A. Mayr (Co-author)
, René Feichtinger (Co-author)
, Stephanie Oerum
, Wyatt W Yue
, Johannes Zschocke

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

48 Citations (Web of Science)

Original language	English
Pages (from-to)	3618-3628
Journal	HUMAN MOLECULAR GENETICS
Volume	23
Issue number	13
DOIs	https://doi.org/10.1093/hmg/ddu072
Publication status	Published - 2014

Keywords

2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE-DEFICIENCY
RNASE P
GENE
PROTEIN
NEURODEGENERATION
BIOGENESIS
METABOLISM
EXPRESSION
ISOLEUCINE
INTEGRITY

Access to Document

10.1093/hmg/ddu072

Cite this

Deutschmann, A. J., Amberger, A., Zavadil, C., Steinbeisser, H., Mayr, J. A., Feichtinger, R., Oerum, S., Yue, W. W., & Zschocke, J. (2014). Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts. HUMAN MOLECULAR GENETICS , 23(13), 3618-3628. https://doi.org/10.1093/hmg/ddu072

Deutschmann, Andrea J ; Amberger, Albert ; Zavadil, Claudia et al. / Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts. In: HUMAN MOLECULAR GENETICS 2014 ; Vol. 23, No. 13. pp. 3618-3628.

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title = "Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.",

keywords = "2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE-DEFICIENCY, RNASE P, GENE, PROTEIN, NEURODEGENERATION, BIOGENESIS, METABOLISM, EXPRESSION, ISOLEUCINE, INTEGRITY",

author = "Deutschmann, \{Andrea J\} and Albert Amberger and Claudia Zavadil and Herbert Steinbeisser and Mayr, \{Johannes A.\} and Ren{\'e} Feichtinger and Stephanie Oerum and Yue, \{Wyatt W\} and Johannes Zschocke",

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doi = "10.1093/hmg/ddu072",

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volume = "23",

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Deutschmann, AJ, Amberger, A, Zavadil, C, Steinbeisser, H, Mayr, JA , Feichtinger, R, Oerum, S, Yue, WW & Zschocke, J 2014, 'Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.', HUMAN MOLECULAR GENETICS , vol. 23, no. 13, pp. 3618-3628. https://doi.org/10.1093/hmg/ddu072

Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts. / Deutschmann, Andrea J; Amberger, Albert; Zavadil, Claudia et al.
In: HUMAN MOLECULAR GENETICS , Vol. 23, No. 13, 2014, p. 3618-3628.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.

AU - Deutschmann, Andrea J

AU - Amberger, Albert

AU - Zavadil, Claudia

AU - Steinbeisser, Herbert

AU - Mayr, Johannes A.

AU - Feichtinger, René

AU - Oerum, Stephanie

AU - Yue, Wyatt W

AU - Zschocke, Johannes

PY - 2014

Y1 - 2014

KW - 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE-DEFICIENCY

KW - RNASE P

KW - GENE

KW - PROTEIN

KW - NEURODEGENERATION

KW - BIOGENESIS

KW - METABOLISM

KW - EXPRESSION

KW - ISOLEUCINE

KW - INTEGRITY

U2 - 10.1093/hmg/ddu072

DO - 10.1093/hmg/ddu072

M3 - Original Article

C2 - 24549042

SN - 0964-6906

VL - 23

SP - 3618

EP - 3628

JO - HUMAN MOLECULAR GENETICS

JF - HUMAN MOLECULAR GENETICS

IS - 13

ER -

Deutschmann AJ, Amberger A, Zavadil C, Steinbeisser H, Mayr JA , Feichtinger R et al. Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts. HUMAN MOLECULAR GENETICS . 2014;23(13):3618-3628. doi: 10.1093/hmg/ddu072