Spectrum of combined respiratory chain defects

Autor: Mayr, J.A., Haack, T.B., Freisinger, P., Karall, D., Makowski, C.C., Koch, J., Feichtinger, R.G., Zimmermann, F.A., Rolinski, B., Ahting, U., Meitinger, T., Prokisch, H., Sperl, W.J.K.

Publikováno v: J. Inherit. Metab. Dis. 38, 629-640 (2015)

Inherited disorders of mitochondrial energy metabolism form a large and heterogeneous group of metabolic diseases. More than 250 gene defects have been reported to date and this number continues to grow. Mitochondrial diseases can be grouped into (1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3474::b9105906516072a71160f73e4cb2786e
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=43973

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

Autor: Koch, J., Freisinger, P., Feichtinger, R.G., Zimmermann, F.A., Rauscher, C., Wagentristl, H.P., Konstantopoulou, V., Seidl, R., Haack, T.B., Prokisch, H., Ahting, U., Sperl, W., Mayr, J.A., Maier, E.M.

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet J. Rare Dis. 10:40 (2015)

BACKGROUND: TTC19 deficiency is a progressive neurodegenerative disease associated with isolated mitochondrial respiratory chain (MRC) complex III deficiency and loss-of-function mutations in the TT19 gene in the few patients reported so far. METHODS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ab01dd5c401e0f0d99ca4b96da89be5e
https://pubmed.ncbi.nlm.nih.gov/25887401

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

Autor: Habib, S.J., Panneels, V., Vasiljev, A., Prokisch, H., Nussberger, S., Neupert, W., Sinning, I., Nargang, F.E., Ahting, U., Rapaport, D., Go, N.E., Kozany, C.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::99ddfad332e997795f1d323ce9834aeb

Alterations of Red Cell Membrane Properties in Nneuroacanthocytosis

Autor: Siegl, C., Hamminger, P., Jank, H., Ahting, U., Bader, B., Danek, A., Gregory, A., Hartig, M., Hayflick, S., Hermann, A., Prokisch, H., Sammler, E.M., Yapici, Z., Prohaska, R., Salzer, U.

Publikováno v: PLoS ONE; Vol 8
PLOS ONE 8(10), e76715 (2013). doi:10.1371/journal.pone.0076715
PLoS ONE
PLoS ONE, Vol 8, Iss 10, p e76715 (2013)
PLoS ONE 8:e76715 (2013)

Neuroacanthocytosis (NA) refers to a group of heterogenous, rare genetic disorders, namely chorea acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL2) and pantothenate kinase associated neurodegeneration (PKAN), that mainl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::baedce7af308523c67016bcc0b0eee29

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