• No results found

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

N/A
N/A
Protected

Academic year: 2020

Share "Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model"

Copied!
14
0
0

Loading.... (view fulltext now)

Full text

Loading

Figure

Fig. 1 Respirometry indicates mitochondrial disease.All activities are expressed relative to the controls
Fig. 2 Blue Native PAGE and Western blot analysis of patient fibroblasts and liver. a The presence of respiratory chain complexes I-IV (CI-CIV), CIIIassembly and BCS1L protein from the patient (P) and controls (C1-C3) were analyzed in fibroblast mitochondr
Fig. 3 BCS1Lc.306A > T inherited from the father and ( mutations in patient and parents
Fig. 4 Reduced Rieske iron-sulfur protein (RISP) immunoreactivity in patient brain. a Immunostaining for RISP in the occipital cortex of controland (b) patient brain
+3

References

Related documents

Once a customer’s online account is created, they can make their purchase by e-mail, recharging a transit pass or a USB key online; view the contents of the pass or key at any

I compute the number of bed-days available per year in each market and use birth certificate data to count the number of infants admitted to the NICU at birth in the same markets..

In direct response to the criticisms that the 1968 Regulations pe- nalized adherents of the voluntary restraint program, the Office of Foreign Direct Investment

In this context, certain precepts on which Dulley anchors her analysis in order to understand translation practices in the Spiritian missions in Angola are useful in

Therefore, this study is aimed at evaluating the effect of the implementation of the Mauk nursing rehabilitation model (agonizing, fantasy, and realizing phases) during

CF classification using the 20 curated neurally-relevant features (gains and losses), together with the total gene count, resulted in 7.9% correctly classified ASD subjects and

Distant supervision As explained in Section 4.1, we auto- matically extracted bilingual dictionaries of identical tokens to be used as supervision for the cross-lingual models. 2018)

(h) If a split trial has not been ordered, and expert evidence is needed in order to assess the value of the claim, for example expert advice on care needs, therapy needs, etc.,