نتایج جستجو برای: leigh syndrome
تعداد نتایج: 623686 فیلتر نتایج به سال:
Mutations in the gene SURF1 prevent synthesis of cytochrome-c oxidase (COX)-specific assembly protein and result in a fatal neurological disorder, Leigh syndrome. Because this severe COX deficiency presents with barely detectable changes of cellular respiratory rates under normoxic conditions, we analyzed the respiratory response to low oxygen in cultured fibroblasts harboring SURF1 mutations w...
Mitochondrial complex I (CI) deficiency is the most prevalent defect in the respiratory chain in paediatric mitochondrial disease. This heterogeneous group of diseases includes serious or fatal neurological presentations such as Leigh syndrome and there are very limited evidence-based treatment options available. Here we describe that cell membrane-permeable prodrugs of the complex II substrate...
Cytochrome c oxidase (complex IV) of the respiratory chain is assembled from nuclear and mitochondrially-encoded subunits. Defects in the assembly process lead to severe human disorders such as Leigh syndrome. Shy1 is an assembly factor for complex IV in Saccharomyces cerevisiae and mutations of its human homolog, SURF1, are the most frequent cause for Leigh syndrome. We report that Shy1 promot...
Neuropathological study of a 3 1/2 year old girl with familial Leigh syndrome who also harboured a rare ATPase gene mutation disclosed extensive and unusual lesions in the cerebral cortex, despite a typical histological pattern. Early lesions in the periacqueductal grey matter of the brainstem, characterised by capillary congestion and initial regressive neuronal changes, were also observed, al...
Leigh syndrome is clinically and genetically heterogeneous, associated with mutations in mitochondrial and nuclear genes.(1) Diagnostic criteria include progressive disorder with motor and intellectual delay/regression; signs and symptoms of brainstem and/or basal ganglia disease; raised lactate concentration in blood and/or CSF; and one or more of the following: (1) characteristic features on ...
Early-onset mitochondrial encephalopathies comprise a challenging group of neurodegenerative disorders. This is due to their progressive nature, often leading to major disability and premature death, as well as their diagnostic complexity and lack of customized treatments. The overall aim of the research presented in this thesis was to explore the phenotypic and genotypic spectrum of childhood-...
Life-threatening hyperammonemia is uncommon in patients with mitochondrial disorders (MDs).When present, it is usualy due to TMEM70 deficiency [1] and only rarely is it noted in other MDs [2]. Hyperammonemia was documented in patients with Barth syndrome [2], maternally inherited Leigh syndrome (MILS) [3], pyruvate dehydrogenase deficiency [4], pyruvate carboxylase deficiency [5], complex III d...
Like so many complex and incurable neurological disorders, the disease first described in this journal in 1951 by (Archibald) Denis Leigh (1915–1998; figure 1) as ‘Subacute Necrotising Encephalomyelopathy’ (SNE) remained for many years a rare and intriguing enigma, of interest mainly to paediatric neurologists and neuropathologists. The more recent history of this disorder, now designated Leigh...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید