Molecular analyses of familial amyloidotic polyneuropathy
نویسندگان
چکیده
منابع مشابه
Transthyretin-related familial amyloidotic polyneuropathy.
Transthyretin-related familial amyloidotic polyneuropathy (FAP) is a fatal hereditary amyloidosis. Until 20 years ago, FAP was thought to be restricted to endemic occurrence in certain areas. However, owing to progress in biochemical and molecular genetic analyses, FAP is now believed to occur worldwide. As of today, reports of about 100 different points of single or double mutations, or a dele...
متن کاملPeritransplant gastrointestinal symptoms in familial amyloidotic polyneuropathy.
OBJECTIVES Gastrointestinal dysfunction is a common complication in familial amyloidotic polyneuropathy, and gastrointestinal symptoms are associated with a patient's nutritional status. The object of this study was to evaluate changes in peritransplant gastrointestinal symptoms and the nutritional status of familial amyloidotic polyneuropathy patients using the modified body mass index followi...
متن کاملGlial cells in familial amyloidotic polyneuropathy
INTRODUCTION Transthyretin V30M mutation is the most common variant leading to Familial Amyloidotic Polyneuropathy. In this genetic disorder, Transthyretin accumulates preferentially in the extracellular matrix of peripheral and autonomic nervous systems leading to cell death and dysfunction. Thus, knowledge regarding important biological systems for Transthyretin clearance might unravel novel ...
متن کاملFamilial amyloidotic polyneuropathy in Crete, Greece
Results The mean age of disease onset was 30 years (range: 27 to 43). All patients presented with paresthesias, temperature loss and progressive weakness at the lower extremities, urinary difficulties, diarrhea, postural dizziness and weight loss. The upper extremities were involved later during the disease progression. Neurological examination revealed loss of pain and temperature sensation in...
متن کاملActivation of ERK1/2 MAP kinases in familial amyloidotic polyneuropathy.
Familial amyloidotic polyneuropathy (FAP) is a neurodegenerative disorder characterized by the extracellular deposition of transthyretin (TTR), especially in the PNS. Given the invasiveness of nerve biopsy, salivary glands (SG) from FAP patients were used previously in microarray analysis; mitogen-activated protein (MAP) kinase phosphatase 1 (MKP-1) was down-regulated in FAP. Results were valid...
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ژورنال
عنوان ژورنال: Japanese journal of human genetics
سال: 1990
ISSN: 0021-5074
DOI: 10.1007/bf01883165