friedreich ataxia/hypoxia

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Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis.

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Prijava / prijava

Friedreich's ataxia (FRDA) is a devastating, multisystemic disorder caused by recessive mutations in the mitochondrial protein frataxin (FXN). FXN participates in the biosynthesis of Fe-S clusters and is considered to be essential for viability. Here we report that when grown in 1% ambient

Identification of hypoxia-inducible target genes of Aspergillus fumigatus by transcriptome analysis reveals cellular respiration as an important contributor to hypoxic survival.

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Prijava / prijava

Aspergillus fumigatus is an opportunistic, airborne pathogen that causes invasive aspergillosis in immunocompromised patients. During the infection process, A. fumigatus is challenged by hypoxic microenvironments occurring in inflammatory, necrotic tissue. To gain further insights into the

Mitochondrial disease activates transcripts of the unfolded protein response and cell cycle and inhibits vesicular secretion and oligodendrocyte-specific transcripts.

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Prijava / prijava

Mutations in gene products expressed in the mitochondrion cause a nuclear transcriptional response that leads to neurological disease. To examine the extent to which the transcriptional profile was shared among 5 mitochondrial diseases (LHON, FRDA, MELAS, KSS, and NARP), we microarrayed mutant and

[Nasal BiPAP (bilevel positive airway pressure) respiration with controlled respiratory mode in neuromuscular diseases and severe kyphoscoliosis].

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Prijava / prijava

The BiPAP-System is a useful ventilatory support for patients with severe sleep apnea and need for high inspiratory pressure. Using the BiPAP as a full ventilatory support is new due to the recent addition of a timed control modus and individual control of inspiratory time. We used the new BiPAP

Calcium Deregulation: Novel Insights to Understand Friedreich's Ataxia Pathophysiology.

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Prijava / prijava

Friedreich's Ataxia (FRDA) is a neurodegenerative disorder, characterized by degeneration of dorsal root ganglia, cerebellum and cardiomyopathy. Heart failure is one of the most common causes of death for FRDA patients. Deficiency of frataxin, a small mitochondrial protein, is responsible for all

The neuropathology of the adult cerebellum.

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Prijava / prijava

This chapter summarizes the neuropathologic features of nonneoplastic disorders of the adult cerebellum. Gait ataxia and extremity dysmetria are clinical manifestations of diseases that interrupt the complex cerebellar circuitry between the neurons of the cerebellar cortex, the cerebellar nuclei

Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia

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Prijava / prijava

Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin (FXN). Most FRDA patients are homozygous for large expansions of GAA repeat sequences in intron 1 of FXN, while a fraction of patients are compound

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