Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

(2015) Kathryn C. Chatfield et al.   MITOCHONDRION

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

(2014) Andrea J. Deutschmann et al.   HUMAN MOLECULAR GENETICS

The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation

(2014) Toshiyuki Fukao et al.   JOURNAL OF HUMAN GENETICS

Mitochondrial diseases: Translation matters

(2012) Sarah Pearce et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

A subcomplex of human mitochondrial RNase P is a bifunctional methyltransferase—extensive moonlighting in mitochondrial tRNA biogenesis

(2012) Elisa Vilardo et al.   NUCLEIC ACIDS RESEARCH

Human diseases with impaired mitochondrial protein synthesis

(2011) Agnès Rötig   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Of P and Z: Mitochondrial tRNA processing enzymes

(2011) Walter Rossmanith   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Processing mitochondrial (t)RNAs: New enzyme, old job

(2011) Walter Rossmanith et al.   CELL CYCLE

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene

(2011) Johannes Zschocke   JOURNAL OF INHERITED METABOLIC DISEASE

A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability

(2011) Laurie H. Seaver et al.   PLoS One

RNA nucleotide methylation

(2011) Yuri Motorin et al.   Wiley Interdisciplinary Reviews-RNA

A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival

(2010) Katharina Rauschenberger et al.   EMBO Molecular Medicine

RNase P without RNA: Identification and Functional Reconstitution of the Human Mitochondrial tRNA Processing Enzyme

(2008) Johann Holzmann et al.   CELL

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis

(2008) Judit García-Villoria et al.   CLINICAL BIOCHEMISTRY