Ahting, Uwe: search on Z-Library

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1

Proteome analysis of mitochondrial outer membrane from Neurospora crassa

Simone Schmitt, Holger Prokisch, Tilman Schlunck, David G. Camp II, Uwe Ahting, Thomas Waizenegger, Curt Scharfe, Thomas Meitinger, Axel Imhof, Walter Neupert, Peter J. Oefner, Doron Rapaport

Journal:

Year:

2006

Language:

english

File:

PDF, 634 KB

english, 2006

2

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

Haghighi, Alireza, Haack, Tobias B, Atiq, Mehnaz, Mottaghi, Hassan, Haghighi-Kakhki, Hamidreza, Bashir, Rani A, Ahting, Uwe, Feichtinger, René G, Mayr, Johannes A, Rötig, Agnès, Lebre, Anne-Sophie, Kl

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 2.22 MB

english, 2014

3

The TOM Core Complex: The General Protein Import Pore of the Outer Membrane of Mitochondria

Uwe Ahting, Clemens Thun, Reiner Hegerl, Dieter Typke, Frank E. Nargang, Walter Neupert and Stephan Nussberger

Journal:

The Journal of Cell Biology

Year:

1999

Language:

english

File:

PDF, 3.51 MB

english, 1999

4

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

Catarino, Claudia B., Ahting, Uwe, Gusic, Mirjana, Iuso, Arcangela, Repp, Birgit, Peters, Katrin, Biskup, Saskia, von Livonius, Bettina, Prokisch, Holger, Klopstock, Thomas

Journal:

Year:

2016

Language:

english

File:

PDF, 830 KB

english, 2016

5

Regulatory myeloid cells paralyze T cells through cellâcell transfer of the metabolite methylglyoxal

Baumann, Tobias, Dunkel, Andreas, Schmid, Christian, Schmitt, Sabine, Hiltensperger, Michael, Lohr, Kerstin, Laketa, Vibor, Donakonda, Sainitin, Ahting, Uwe, Lorenz-Depiereux, Bettina, Heil, Jan E., S

Journal:

Nature Immunology

Year:

2020

File:

PDF, 17.73 MB

2020

6

Impaired riboflavin transport due to missense mutations inSLC52A2causes Brown-Vialetto-Van Laere syndrome

Haack, Tobias B., Makowski, Christine, Yao, Yoshiaki, Graf, Elisabeth, Hempel, Maja, Wieland, Thomas, Tauer, Ulrike, Ahting, Uwe, Mayr, Johannes A., Freisinger, Peter, Yoshimatsu, Hiroki, Inui, Ken, S

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 379 KB

english, 2012

7

Spectrum of combined respiratory chain defects

Mayr, Johannes A., Haack, Tobias B., Freisinger, Peter, Karall, Daniela, Makowski, Christine, Koch, Johannes, Feichtinger, René G., Zimmermann, Franz A., Rolinski, Boris, Ahting, Uwe, Meitinger, Thoma

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 1023 KB

english, 2015

8

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

Haack, Tobias B., Gorza, Matteo, Danhauser, Katharina, Mayr, Johannes A., Haberberger, Birgit, Wieland, Thomas, Kremer, Laura, Strecker, Valentina, Graf, Elisabeth, Memari, Yasin, Ahting, Uwe, Kopajti

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 1.16 MB

english, 2014

9

Mitochondrial Depletion Syndromes in Children and Adults

Finsterer, Josef, Ahting, Uwe

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2013

File:

PDF, 229 KB

2013

10

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

Ahting, Uwe, Mayr, Johannes A., Vanlander, Arnaud V., Hardy, Steven A., Santra, Saikat, Makowski, Christine, Alston, Charlotte L., Zimmermann, Franz A., Abela, Lucia, Plecko, Barbara, Rohrbach, Marian

Journal:

Frontiers in Genetics

Year:

2015

Language:

english

File:

PDF, 4.36 MB

english, 2015

11

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

Reinson, Karit, Kovacs-Nagy, Reka, Õiglane-Shlik, Eve, Pajusalu, Sander, Nõukas, Margit, Wintjes, Liesbeth T., van den Brandt, Frans C.A., Brink, Maaike, Acker, Till, Ahting, Uwe, Hahn, Andreas, Schän

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.12 MB

english, 2018

12

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

Rapaport, Doron, Künkele, Klaus-Peter, Dembowski, Markus, Ahting, Uwe, Nargang, Frank E., Neupert, Walter, Lill, Roland

Journal:

Molecular and Cellular Biology

Year:

1998

Language:

english

File:

PDF, 723 KB

english, 1998

13

Alterations of Red Cell Membrane Properties in Nneuroacanthocytosis

Siegl, Claudia, Hamminger, Patricia, Jank, Herbert, Ahting, Uwe, Bader, Benedikt, Danek, Adrian, Gregory, Allison, Hartig, Monika, Hayflick, Susan, Hermann, Andreas, Prokisch, Holger, Sammler, Esther

Journal:

Year:

2013

Language:

english

File:

PDF, 2.32 MB

english, 2013

14

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

Matthias Elstner, Christophe Andreoli, Uwe Ahting, Igor Tetko, Thomas Klopstock, Thomas Meitinger, Holger Prokisch

Journal:

Molecular Biotechnology

Year:

2008

Language:

english

File:

PDF, 762 KB

english, 2008

15

Adult mitochondrial DNA depletion syndrome with mild manifestations

Finsterer, Josef, Kovacs, Gabor G., Ahting, Uwe

Journal:

Neurology International

Year:

2013

Language:

english

File:

PDF, 605 KB

english, 2013

16

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

Florian Brackmann, Angela Abicht, Uwe Ahting, Rolf Schröder, Regina Trollmann

Journal:

European Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 245 KB

english, 2012

17

Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia

Lorenz, Robin, Ahting, Uwe, Betzler, Cornelia, Heimering, Sigrid, Borggräfe, Ingo, Lange-Sperandio, Bärbel

Journal:

Year:

2019

Language:

english

File:

PDF, 238 KB

english, 2019

18

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

Riedhammer, Korbinian M, Stockler, Sylvia, Ploski, Rafal, Wenzel, Maren, Adis-Dutschmann, Burkhard, Ahting, Uwe, Alhaddad, Bader, Blaschek, Astrid, Haack, Tobias B, Kopajtich, Robert, Lee, Jessica Y,

Journal:

Year:

2020

File:

PDF, 874 KB

2020

19

Case report Adult, isolated respiratory chain complex IV deficiency with minimal manifestations

Finsterer, Josef, Kovacs, Gabor G., Rauschka, Helmut, Ahting, Uwe

Journal:

Folia Neuropathologica

Year:

2015

File:

PDF, 162 KB

2015

20

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

Perocchi, Fabiana, Jensen, Lars J., Gagneur, Julien, Ahting, Uwe, von Mering, Christian, Bork, Peer, Prokisch, Holger, Steinmetz, Lars M.

Journal:

Year:

2006

Language:

english

File:

PDF, 1.16 MB

english, 2006

21

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

Uwe Ahting, Thomas Floss, Nikolas Uez, Ilka Schneider-Lohmar, Lore Becker, Eva Kling, Arcangela Iuso, Andreas Bender, Martin Hrabé de Angelis, Valérie Gailus-Durner, Helmut Fuchs, Thomas Meitinger, Wo

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2009

Language:

english

File:

PDF, 644 KB

english, 2009

22

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

Rapaport, Doron, Künkele, Klaus-Peter, Dembowski, Markus, Ahting, Uwe, Nargang, Frank E., Neupert, Walter, Lill, Roland

Journal:

Molecular and Cellular Biology

Year:

1998

File:

PDF, 723 KB

1998

23

Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

Johannes A. Mayr, Peter Freisinger, Kurt Schlachter, Boris Rolinski, Franz A. Zimmermann, Thomas Scheffner, Tobias B. Haack, Johannes Koch, Uwe Ahting, Holger Prokisch, Wolfgang Sperl

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 474 KB

english, 2011

24

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

Uwe Ahting, Michel Thieffry, Harald Engelhardt, Reiner Hegerl, Walter Neupert and Stephan Nussberger

Journal:

The Journal of Cell Biology

Year:

2001

Language:

english

File:

PDF, 2.46 MB

english, 2001

25

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

Wagner, Matias, Berutti, Riccardo, Lorenz‐Depiereux, Bettina, Graf, Elisabeth, Eckstein, Gertrud, Mayr, Johannes A., Meitinger, Thomas, Ahting, Uwe, Prokisch, Holger, Strom, Tim M., Wortmann, Saskia B

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.31 MB

english, 2019

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