Proinflammatory Cytokines Profile, a Link Between Multiple Myeloma and Gaucher Disease
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چکیده
منابع مشابه
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease.
Gaucher disease (GD), a sphingolipidosis characterized by impaired activity of the lysosomal enzyme glucocerebrosidase (GCase), results from mutations in the GCase-encoding gene, GBA. We have shown that mutant GCase variants present variable degrees of endoplasmic reticulum (ER) retention and undergo ER-associated degradation (ERAD) in the proteasome. Furthermore, the degree of ERAD of mutant G...
متن کاملLooping the link between Gaucher and Parkinson's disease.
1. Galvin JE, Lee VM, Trojanowski JQ. Synucleinopathies: clinical and pathological implications. Arch Neurol 2001: 58 (2): 186–190. 2. Mazzulli JR, Xu YH, Sun Y et al. Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 2011: 146 (1): 37–52. 3. Cookson MR. A feedforward loop links Gaucher and Parkinson’s diseases? Cell 2011: 146 (1)...
متن کاملGaucher disease: clinical profile and therapeutic developments
Gaucher disease is a rare inborn error of glycosphingolipid metabolism due to deficiency of lysosomal acid β-glucocerebrosidase; the condition has totemic significance for the development of orphan drugs. A designer therapy, which harnesses the mannose receptor to complement the functional defect in macrophages, ameliorates the principal clinical manifestations in hematopoietic bone marrow and ...
متن کاملMultiple myeloma: a clinical and pathological profile.
UNLABELLED Multiple myeloma is a plasma cell neoplasm with a spectrum spanning from localized to disseminated forms, plasma cell infiltration of various organs, plasma cell leukemia and abnormal immunoglobulin chain deposition in the tissues. In the bone marrow, myeloma cells are seen, and vary from mature forms to immature pleomorphic, anaplastic cells. M component is found in the serum or uri...
متن کاملProinflammatory cytokines, sickness behavior, and Alzheimer disease.
BACKGROUND In Alzheimer disease (AD), systemic inflammation is known to give rise to a delirium. However, systemic inflammation also gives rise to other centrally mediated symptoms in the absence of a delirium, a concept known as sickness behavior. Systemic inflammation is characterized by the systemic production of the proinflammatory cytokines tumor necrosis factor-α (TNFα) and interleukin-6 ...
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ژورنال
عنوان ژورنال: Blood
سال: 2014
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v124.21.4952.4952