J. von Kleist-Retzow

发表

A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations

R. Wiesner, M. Helm, A. Hayrapetyan, 2005, Nucleic acids research.

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

A. Munnich, P. Rustin, A. Rötig, 1999, European Journal of Pediatrics.

Antenatal manifestations of mitochondrial respiratory chain deficiency.

A. Munnich, F. Brunelle, P. Rustin, 2003, The Journal of pediatrics.

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.

M. Huynen, R. Rodenburg, J. Fransen, 2011, Mitochondrion.

Impaired mitochondrial Ca2+ homeostasis in respiratory chain-deficient cells but efficient compensation of energetic disadvantage by enhanced anaerobic glycolysis due to low ATP steady state levels.

R. Wiesner, K. Maniura‐Weber, J. Beuth, 2007, Experimental cell research.

Mosaic Deficiency in Mitochondrial Oxidative Metabolism Promotes Cardiac Arrhythmia during Aging.

A. Bunck, R. Wiesner, W. Kunz, 2015, Cell metabolism.

Liver adapts mitochondrial function to insulin resistant and diabetic states in mice.

M. D. de Angelis, M. Irmler, J. Beckers, 2014, Journal of hepatology.

Bezafibrate Reduces Elevated Hepatic Fumarate in Insulin-Deficient Mice

J. Adamski, M. D. de Angelis, C. Prehn, 2022, Biomedicines.

Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.

A. Munnich, L. Hertz-Pannier, F. Brunelle, 2000, The Journal of pediatrics.

Clinical trial of L‐Carnitine and valproic acid in spinal muscular atrophy type I

M. Schroth, T. Crawford, B. Wirth, 2018, Muscle & nerve.

Prohibitins control cell proliferation and apoptosis by regulating OPA1-dependent cristae morphogenesis in mitochondria.

Benedikt Westermann, Ari Waisman, A. Waisman, 2008, Genes & development.

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency.

A. Munnich, P. Rustin, A. Rötig, 1999, Biochimica et biophysica acta.

Impaired Insulin Signaling is Associated with Hepatic Mitochondrial Dysfunction in IR+/−-IRS-1+/− Double Heterozygous (IR-IRS1dh) Mice

M. Paulsson, R. Wiesner, A. Franko, 2017, International journal of molecular sciences.

Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene

R. Lightowlers, R. Wiesner, M. Helm, 2006, Nucleic acids research.

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

A. Munnich, P. Rustin, A. Rötig, 1998, American journal of human genetics.

Infliximab is an appropriate second‐line therapy in infants with steroid refractory pyoderma gangrenosum

A. Torrelo, J. Peitz, I. Broekaert, 2022, Journal of the European Academy of Dermatology and Venereology : JEADV.

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

A. Munnich, P. Rustin, A. Rötig, 2000, Human molecular genetics.

Mutations in SURF1 are not specifically associated with Leigh syndrome

E. Shoubridge, A. Munnich, P. Rustin, 2001, Journal of medical genetics.

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2010, Molecular genetics and metabolism.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

C. Ober, R. Hegele, O. Suchowersky, 2013, American journal of human genetics.

Regulation of mitochondrial proliferation in the heart: power-plant failure contributes to cardiac failure in hypertrophy.

R. Wiesner, S. Goffart, J. von Kleist-Retzow, 2004, Cardiovascular research.

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.

B Claustrat, M Vekemans, A. Munnich, 2001, The Journal of pediatrics.

The Ras related GTPase Miro is not required for mitochondrial transport in Dictyostelium discoideum.

M. Eliáš, R. Wiesner, F. Rivero, 2011, European journal of cell biology.

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Vicente A. Yépez, J. Gagneur, T. Meitinger, 2021, medRxiv.

Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis

J. Dötsch, S. Çırak, P. Herkenrath, 2016, Molecular and Cellular Pediatrics.

Whole‐body high‐field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita

M. Wattjes, K. Jurkat-Rott, B. Czermin, 2010, Acta neurologica Scandinavica.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, medRxiv.

Human epidermal keratinocytes accumulate superoxide due to low activity of Mn-SOD, leading to mitochondrial functional impairment.

R. Wiesner, A. Kudin, W. Kunz, 2007, The Journal of investigative dermatology.

Negative regulation of mitochondrial transcription by mitochondrial topoisomerase I

Morten O. Christensen, Y. Pommier, R. Wiesner, 2013, Nucleic acids research.

Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice.

T. Schulz, René Thierbach, A. Voigt, 2005, Human molecular genetics.

Diagnostic Value of Electromyography in Children and Adolescents

W. Haupt, P. Herkenrath, J. von Kleist-Retzow, 2005, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

P. Bénit, A. Munnich, P. Rustin, 2001, Prenatal diagnosis.

A novel mutation and novel features in Nijmegen breakage syndrome

A. Green, E. Shoubridge, A. Munnich, 2001, Journal of medical genetics.