(Q33570563)

28 July 2017

title

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome (English)

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fragile X-associated tremor/ataxia syndrome

28 July 2017

main subject

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10

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28 July 2017

8

Randi J Hagerman

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28 July 2017

Catherine Ross-Inta

1

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28 July 2017

Alicja Omanska-Klusek

2

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28 July 2017

Sarah Wong

3

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28 July 2017

Cedrick Barrow

4

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28 July 2017

Dolores Garcia-Arocena

5

1 reference

28 July 2017

Christine Iwahashi

6

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28 July 2017

Elizabeth Berry-Kravis

7

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28 July 2017

Paul J Hagerman

9

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28 July 2017

language of work or name

English

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publication date

1 August 2010

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28 July 2017

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28 July 2017

volume

429

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28 July 2017

issue

3

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28 July 2017

page(s)

545-552

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Advances in understanding the molecular basis of FXTAS

28 July 2017

cites work

1 reference

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Nitration of specific tyrosines in FoF1 ATP synthase and activity loss in aging

21 June 2018

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Fibroblast phenotype in male carriers of FMR1 premutation alleles

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism

21 June 2018

1 reference

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Ca2+/calmodulin-dependent protein kinase IV links group I metabotropic glutamate receptors to fragile X mental retardation protein in cingulate cortex.

21 June 2018

1 reference

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Threonine-deficient diets induced changes in hepatic bioenergetics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Fragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome

21 June 2018

1 reference

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Patients with type 2 diabetes have normal mitochondrial function in skeletal muscle

21 June 2018

1 reference

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Rapid turnover of mcl-1 couples translation to cell survival and apoptosis

21 June 2018

1 reference

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Current analytical methods for the detection of dityrosine, a biomarker of oxidative stress, in biological samples

21 June 2018

1 reference

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Physiology and pathophysiology of the calcium store in the endoplasmic reticulum of neurons

21 June 2018

1 reference

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Correlates across the structural, functional, and molecular phenotypes of fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

The unfolded protein response is involved in the pathology of Alzheimer's disease.

21 June 2018

1 reference

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FMR1 silencing and the signals to chromatin: a unified model of transcriptional regulation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Magnetic resonance spectroscopy of the human brain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Autism: the point of view from fragile X studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Decline with age of the respiratory chain activity in human skeletal muscle.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Activation of the double-stranded RNA-regulated protein kinase by depletion of endoplasmic reticular calcium stores

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Methods for study of normal and abnormal skeletal muscle mitochondria

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Control of respiration in non-phosphorylating mitochondria is shared between the proton leak and the respiratory chain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Fragile X syndrome, DSM-III-R, and autism.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Translational control in mammalian cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Absence of expression of the FMR-1 gene in fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Nitration of tyrosine residues 368 and 345 in the beta-subunit elicits FoF1-ATPase activity loss

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Group I metabotropic glutamate receptor-induced Ca(2+)-gradients in rat superficial spinal dorsal horn neurons.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Neuropathic features in fragile X premutation carriers.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Protein composition of the intranuclear inclusions of FXTAS.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Differential requirements of calcium for oxoglutarate dehydrogenase and mitochondrial nitric-oxide synthase under hypoxia: impact on the regulation of mitochondrial oxygen consumption

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Role of calcium signaling in the activation of mitochondrial nitric oxide synthase and citric acid cycle.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Exposure of hydrophobic moieties promotes the selective degradation of hydrogen peroxide-modified hemoglobin by the multicatalytic proteinase complex, proteasome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Obstetrical and gynecological complications in fragile X carriers: a multicenter study

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4011071

Role of Ca2+ stores in metabotropic L-glutamate receptor-mediated supralinear Ca2+ signaling in rat hippocampal neurons

31 October 2018

1 reference

12 December 2020

Aspects, mechanism, and biological relevance of mitochondrial protein nitration sustained by mitochondrial nitric oxide synthase

1 reference

12 December 2020

Regulation of mitochondrial metabolism by ER Ca2+ release: an intimate connection

1 reference

12 December 2020

DECLINE IN SKELETAL MUSCLE MITOCHONDRIAL RESPIRATORY CHAIN FUNCTION: POSSIBLE FACTOR IN AGEING

1 reference

12 December 2020

Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: effect of ageing

1 reference

12 December 2020

Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects

1 reference

12 December 2020

A Simple and Rapid Assay of Oxidative Phosphorylation

1 reference

12 December 2020

The respiratory chain and oxidative phosphorylation

1 reference

12 December 2020

Identifiers

DOI

10.1042/BJ20091960

1 reference

28 July 2017

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28 July 2017

1 reference