نتایج جستجو برای: associated neurodegeneration

تعداد نتایج: 1531207  

Journal: :Pediatrics 2015
Michelle Long Nishard Abdeen Michael T Geraghty Penelope Hogarth Susan Hayflick Sunita Venkateswaran

β-propeller protein-associated neurodegeneration (BPAN) is a recently identified X-linked dominant form of neurodegeneration with brain iron accumulation caused by mutations in the WDR45 gene. BPAN commonly presents as global developmental delay in childhood with rapid onset of parkinsonism and dementia in early adulthood and associated pathognomonic changes seen on brain MRI. In this case repo...

Journal: :Biochemical Society transactions 2010
Annakaisa Haapasalo Jayashree Viswanathan Lars Bertram Hilkka Soininen Rudolph E Tanzi Mikko Hiltunen

Abnormal protein aggregation and intracellular or extracellular accumulation of misfolded and aggregated proteins are key events in the pathogenesis of different neurodegenerative diseases. Furthermore, endoplasmic reticulum stress and impairment of the ubiquitin-proteasome system probably contribute to neurodegeneration in these diseases. A characteristic feature of AD (Alzheimer's disease) is...

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