U. Ahting

发表

Signal-anchored Proteins Follow a Unique Insertion Pathway into the Outer Membrane of Mitochondria*

W. Neupert, Thomas Waizenegger, D. Rapaport, 2005, Journal of Biological Chemistry.

Assessing Systems Properties of Yeast Mitochondria through an Interaction Map of the Organelle

Peer Bork, Lars M Steinmetz, Lars J Jensen, 2006, PLoS genetics.

MitoP2: An Integrative Tool for the Analysis of the Mitochondrial Proteome

I. Tetko, M. Elstner, T. Meitinger, 2008, Molecular biotechnology.

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

T. Wieland, T. Meitinger, T. Strom, 2014, Molecular genetics and metabolism.

Recognition of preproteins by the isolated TOM complex of mitochondria

W. Neupert, S. Nussberger, K. Künkele, 2000, The EMBO journal.

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

Robert W. Taylor, H. Prokisch, A. Rötig, 2014, Orphanet Journal of Rare Diseases.

Mitochondrial Depletion Syndromes in Children and Adults

J. Finsterer, U. Ahting, 2013, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation

H. Prokisch, D. Berg, K. Gempel, 2008, Journal of Neurology.

Apocytochrome c requires the TOM complex for translocation across the mitochondrial outer membrane

W. Neupert, B. de Kruijff, R. Lill, 2001, The EMBO journal.

MitoP2, an integrated database for mitochondrial proteins.

H. Prokisch, U. Ahting, 2007, Methods in molecular biology.

Role of Tom5 in Maintaining the Structural Stability of the TOM Complex of Mitochondria*

W. Neupert, S. Nussberger, F. Nargang, 2005, Journal of Biological Chemistry.

Alterations of Red Cell Membrane Properties in Nneuroacanthocytosis

H. Prokisch, A. Danek, U. Ahting, 2013, PloS one.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

T. Wieland, T. Meitinger, T. Strom, 2012, Journal of Medical Genetics.

Spectrum of combined respiratory chain defects

T. Meitinger, H. Prokisch, T. Haack, 2015, Journal of Inherited Metabolic Disease.

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

H. Prokisch, T. Haack, U. Ahting, 2015, Orphanet Journal of Rare Diseases.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency

T. Wieland, A. Munnich, H. Smeets, 2018 .

Dynamics of the TOM Complex of Mitochondria during Binding and Translocation of Preproteins

W. Neupert, F. Nargang, D. Rapaport, 1998, Molecular and Cellular Biology.

The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy"

T. Acker, J. Schuld, P. F. van der Ven, 2021, Journal of Muscle Research and Cell Motility.

Tom40, the Pore-Forming Component of the Protein-Conducting Tom Channel in the Outer Membrane of Mitochondria

Reiner Hegerl, Walter Neupert, Stephan Nussberger, 2001, The Journal of cell biology.

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis

P. Nürnberg, J. Altmüller, U. Ahting, 2013, neurogenetics.

Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.

H. Prokisch, T. Haack, U. Ahting, 2011, American journal of human genetics.

Regulatory myeloid cells paralyze T cells through cell–cell transfer of the metabolite methylglyoxal

H. Zischka, T. Misgeld, T. Korn, 2020, Nature Immunology.

The Tom Core Complex

R. Hegerl, D. Typke, W. Neupert, 1999, The Journal of cell biology.

MitoP2: the mitochondrial proteome database—now including mouse data

Thomas Meitinger, Andreas Ruepp, Holger Prokisch, 2005, Nucleic Acids Res..

Proteome analysis of mitochondrial outer membrane from Neurospora crassa

P. Oefner, T. Meitinger, H. Prokisch, 2006, Proteomics.

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

T. Wieland, T. Meitinger, T. Strom, 2012, Journal of Inherited Metabolic Disease.

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

T. Meitinger, T. Strom, H. Prokisch, 2018, Neuropediatrics.

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.

T. Meitinger, I. Krägeloh-Mann, R. Płoski, 2020, Brain : a journal of neurology.

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Robert W. Taylor, H. Hakonarson, Yiran Guo, 2018, Brain : a journal of neurology.

Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease

T. Meitinger, T. Strom, H. Prokisch, 2019, Journal of inherited metabolic disease.

Adult, isolated respiratory chain complex IV deficiency with minimal manifestations.

J. Finsterer, U. Ahting, G. Kovacs, 2015, Folia neuropathologica.

Reconstituted TOM core complex and Tim9/Tim10 complex of mitochondria are sufficient for translocation of the ADP/ATP carrier across membranes.

Holger Prokisch, Walter Neupert, Irmgard Sinning, 2003, Molecular biology of the cell.

Adult Mitochondrial DNA Depletion Syndrome with Mild Manifestations

J. Finsterer, U. Ahting, Gabor G. Kovacs, 2013, Neurology international.

DJ‐1‐deficient mice show less TH‐positive neurons in the ventral tegmental area and exhibit non‐motoric behavioural impairments

W. Wurst, H. Prokisch, S. Hölter, 2010, Genes, brain, and behavior.

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

E. Bertini, T. Meitinger, T. Strom, 2015, American journal of human genetics.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2015, Front. Genet..

The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy"

T. Acker, J. Schuld, U. Ahting, 2021, Journal of Muscle Research and Cell Motility.

The Tom Core Complex

R. Hegerl, D. Typke, W. Neupert, 1999, The Journal of cell biology.

Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.

H. Fuchs, T. Meitinger, W. Wurst, 2009, Biochimica et biophysica acta.

Clinical , biochemical , and genetic spectrum of seven patients with NFU 1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2017 .

Regulatory myeloid cells paralyze T cells through cell–cell transfer of the metabolite methylglyoxal

Thomas Hofmann, H. Zischka, T. Misgeld, 2020, Nature Immunology.

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

Nicolas A. Dumont, K. Kandaswamy, T. Strom, 2019, Genetics in Medicine.

Classical MERRF phenotype associated with mitochondrial tRNALeu (m.3243A>G) mutation

U. Ahting, R. Schröder, R. Trollmann, 2012, European Journal of Pediatrics.

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

T. Acker, R. Rodenburg, T. Haack, 2019, European journal of medical genetics.

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis

P. Nürnberg, J. Altmüller, U. Ahting, 2013, neurogenetics.

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

T. Meitinger, V. Tiranti, M. Zeviani, 2011, Journal of Medical Genetics.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.

H. Prokisch, U. Ahting, T. Klopstock, 2017, Mitochondrion.

Mitochondriopathy due to mutations in MTFMT: a predominant neurologic phenotype

T. Meitinger, H. Prokisch, T. Haack, 2013 .

Multiple Acyl-CoA-dehydrogenase deficiency (MADD) — A novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH

U. Ahting, D. Heuss, B. Rolinski, 2011, Journal of the Neurological Sciences.

DJ‐1‐deficient mice show less TH‐positive neurons in the ventral tegmental area and exhibit non‐motoric behavioural impairments

M. Angelis, S. Hölter, M. Kallnik, 2010, Genes, brain, and behavior.

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

T. Wieland, T. Meitinger, T. Strom, 2014, Molecular genetics and metabolism.