Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA)
about
Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesMutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndromeSOD2 deficient erythroid cells up-regulate transferrin receptor and down-regulate mitochondrial biogenesis and metabolism.Mechanism of protein biosynthesis in mammalian mitochondria.Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins.Mechanisms of mitochondrial diseases.RNA Pseudouridylation in Physiology and Medicine: For Better and for Worse.Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
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P2860
Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA)
description
2007 nî lūn-bûn
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2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Pleiotropic effects and compen ...... d sideroblastic anemia (MLASA)
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Pleiotropic effects and compen ...... d sideroblastic anemia (MLASA)
@en
type
label
Pleiotropic effects and compen ...... d sideroblastic anemia (MLASA)
@ast
Pleiotropic effects and compen ...... d sideroblastic anemia (MLASA)
@en
prefLabel
Pleiotropic effects and compen ...... d sideroblastic anemia (MLASA)
@ast
Pleiotropic effects and compen ...... d sideroblastic anemia (MLASA)
@en
P2093
P2860
P1476
Pleiotropic effects and compen ...... d sideroblastic anemia (MLASA)
@en
P2093
Emebet Mengesha
Nathan Fischel-Ghodsian
Yelena Bykhovskaya
P2860
P304
P356
10.1016/J.YMGME.2007.02.006
P577
2007-03-19T00:00:00Z