Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect.
about
Single-gene disorders: what role could moonlighting enzymes play?Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteinsSplice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intoleranceIron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster deliveryIron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study.Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathyIron-sulfur cluster biogenesis and human diseaseExercise in the postural orthostatic tachycardia syndromeThe functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotypeMutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.Exertional dyspnea in mitochondrial myopathy: clinical features and physiological mechanismsAbnormal haemodynamic response to exercise in heart failure with preserved ejection fraction.Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension.Increased capillaries in mitochondrial myopathy: implications for the regulation of oxygen delivery.Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.The High Level of Aberrant Splicing of ISCU in Slow-Twitch Muscle May Involve the Splicing Factor SRSF3.Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy.Loss of cardiolipin leads to perturbation of mitochondrial and cellular iron homeostasis.VO2max: what do we know, and what do we still need to know?Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron-sulfur cluster depletion in human skeletal muscleConditional knockout of Mn-SOD targeted to type IIB skeletal muscle fibers increases oxidative stress and is sufficient to alter aerobic exercise capacity.The clinical maze of mitochondrial neurologyIron-dependent functions of mitochondria--relation to neurodegeneration.Mitochondrial complex enzyme activities and cytochrome C expression changes in multiple sclerosis.Metabolic Myoglobinuria.Myopathology of Adult and Paediatric Mitochondrial Diseases.Metabolic flexibility of mitochondrial respiratory chain disorders predicted by computer modelling.Biochemical and genetic studies in a family with mitochondrial myopathy.Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.Cardiopulmonary Exercise Testing and Metabolic Myopathies.Tail muscles become slow but fatigable in chronic sacral spinal rats with spasticity.Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell lines.Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice.
P2860
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P2860
Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect.
description
1991 nî lūn-bûn
@nan
1991 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Deficiency of skeletal muscle ...... human muscle oxidative defect.
@ast
Deficiency of skeletal muscle ...... human muscle oxidative defect.
@en
Deficiency of skeletal muscle ...... human muscle oxidative defect.
@nl
type
label
Deficiency of skeletal muscle ...... human muscle oxidative defect.
@ast
Deficiency of skeletal muscle ...... human muscle oxidative defect.
@en
Deficiency of skeletal muscle ...... human muscle oxidative defect.
@nl
prefLabel
Deficiency of skeletal muscle ...... human muscle oxidative defect.
@ast
Deficiency of skeletal muscle ...... human muscle oxidative defect.
@en
Deficiency of skeletal muscle ...... human muscle oxidative defect.
@nl
P2093
P2860
P356
P1476
Deficiency of skeletal muscle ...... human muscle oxidative defect.
@en
P2093
C G Blomqvist
K G Henriksson
L Jorfeldt
N H Areskog
R G Haller
P2860
P304
P356
10.1172/JCI115422
P407
P577
1991-10-01T00:00:00Z