A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60

scientific article published on 01 August 1997

A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60 is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1024977982
P356DOI10.1023/A:1005303008439
P698PubMed publication ID9266394

P2093author name stringE Agsteribbe
A Ribes
M A Vilaseca
A Huckriede
M Lluch
P Briones
A Vernet
V Cusi
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Mitochondrial heat-shock protein hsp60 is essential for assembly of proteins imported into yeast mitochondriaQ27933539
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Confocal scanning laser microscopy of mitochondria: a possible tool in the diagnosis of mitochondrial disordersQ33350458
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseasesQ35196481
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Molecular basis of mitochondrial DNA diseaseQ40697787
Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathiesQ40881676
An electron-transport system associated with the outer membrane of liver mitochondria. A biochemical and morphological studyQ41093578
"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosisQ41932603
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Fatal combined defects in mitochondrial multienzyme complexes in two siblingsQ42452012
Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complexQ42512207
The action of digitonin on rat liver mitochondria. The effects on enzyme contentQ42952875
A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60.Q48282492
Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosisQ48294586
Clinical and biochemical findings in a Spanish boy with primary carnitine deficiencyQ60746362
Significance of bound glutarate in the diagnosis of glutaric aciduria type IQ67560162
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNAQ67739362
Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathiesQ68147084
Mitochondrial myopathies: multiple enzyme defects in the respiratory chainQ69256496
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Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sampleQ69938799
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiencyQ70167731
Revised assays for the investigation of congenital lactic acidosis using 14C keto acids, eliminating problems associated with spontaneous decarboxylationQ70451269
The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosisQ71519179
Morphology of the mitochondria in heat shock protein 60 deficient fibroblasts from mitochondrial myopathy patients. Effects of stress conditionsQ71796194
Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduriaQ72097479
Decreased synthesis and inefficient mitochondrial import of hsp60 in a patient with a mitochondrial encephalomyopathyQ72872918
P433issue4
P304page(s)569-577
P577publication date1997-08-01
P1433published inJournal of Inherited Metabolic DiseaseQ6295359
P1476titleA new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60
P478volume20

Reverse relations

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Q49994173Folding and assembly defects of pyruvate dehydrogenase deficiency-related variants in the E1α subunit of the pyruvate dehydrogenase complex
Q35561244Gastrointestinal manifestations of mitochondrial disease
Q34911441Heat shock proteins modulate keloid formation
Q28192185Laboratory approach to mitochondrial diseases
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