Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.
about
Hypomyelinating leukodystrophies: translational research progress and prospectsMissense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.The N terminus of pro-endothelial monocyte-activating polypeptide II (EMAP II) regulates its binding with the C terminus, arginyl-tRNA synthetase, and neurofilament light protein.Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.Stepping Out of the Cytosol: AIMp1/p43 Potentiates the Link Between Innate and Adaptive Immunity.Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
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P2860
Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.
@en
Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.
@nl
type
label
Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.
@en
Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.
@nl
prefLabel
Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.
@en
Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.
@nl
P2093
P2860
P1476
Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.
@en
P2093
Catherine Sarret
Catherine Vaurs-Barrière
Geneviève Giraud
Imen Dorboz
Mélina Bégou
Odile Boespflug-Tanguy
Patrick Aubourg
P2860
P304
392-3; author reply 393-5
P356
10.1016/J.AJHG.2010.12.015
P407
P577
2011-03-01T00:00:00Z