Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease
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چکیده
منابع مشابه
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.
Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson disease, and the relationship between the conditions has not been clear. In a six-generation consanguineous Turkish kindred with both essential tremor and Parkinson disease, we carried out whole exo...
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HtrA2 (high-temperature requirement 2) is a human mitochondrial protease that has a role in apoptosis and Parkinson's disease. The structure of HtrA2 with an intact catalytic triad was determined, revealing a conformational change in the active site loops, involving mainly the regulatory LD loop, which resulted in burial of the catalytic serine relative to the previously reported structure of t...
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We present a case report of a newborn girl that was admitted at the University Childrens Hospital Braşov Romania, for dehydration and cyanosis. She also presented with the characteristic features of Down syndrome associated to symptomes of Di George syndrome. She presented with persistent hypocalcemia, IgA hypogamaglobulinemia and tymus agenesis that was seen on the radiographic image. Down syn...
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Mitochondria are cellular energy generators whose activity requires a continuous supply of oxygen. Recent genetic analysis has suggested that defects in mitochondrial quality control may be key factors in the development of Parkinson's disease (PD). Mitochondria have a crucial role in supplying energy to the brain, and their deterioration can affect the function and viability of neurons, contri...
متن کاملAkt attenuation of the serine protease activity of HtrA2/Omi through phosphorylation of serine 212.
The serine protease HtrA2/Omi is released from the mitochondria into the cytosol following apoptosis stimuli, leading to the programmed cell death in caspase-dependent and -independent manners. The function of HtrA2/Omi closely relates to its protease activity, which is required for cleavage of its substrate such as the members of the X-linked inhibitor of apoptotic protein family. However, the...
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ژورنال
عنوان ژورنال: Parkinson's Disease
سال: 2018
ISSN: 2090-8083,2042-0080
DOI: 10.1155/2018/5651435