A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.
about
A pathway from chromosome transfer to engineering resulting in human and mouse artificial chromosomes for a variety of applications to bio-medical challengesIron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster deliveryRole of Nfu1 and Bol3 in iron-sulfur cluster transfer to mitochondrial clients.Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.Systematic identification of human mitochondrial disease genes through integrative genomics.Iron-sulfur cluster biogenesis and human diseaseMutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteinsMitochondrial ribosomal proteins: candidate genes for mitochondrial disease.Moving toward a higher efficiency of microcell-mediated chromosome transferThe spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Differential diagnosis of lipoic acid synthesis defects.Iron and copper in mitochondrial diseases.IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.New spastic paraplegia phenotype associated to mutation of NFU1.Understanding the molecular basis for multiple mitochondrial dysfunctions syndrome 1 (MMDS1): impact of a disease-causing Gly189Arg substitution on NFU1.Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.Combinations of chromosome transfer and genome editing for the development of cell/animal models of human disease and humanized animal models.Multiregional gene expression profiling identifies MRPS6 as a possible candidate gene for Parkinson's disease.Understanding the Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1)-Impact of a Disease-Causing Gly208Cys Substitution on Structure and Activity of NFU1 in the Fe/S Cluster Biosynthetic Pathway.Novel NFU1 Variants Induced MMDS Behaved as Special Leukodystrophy in Chinese Sufferers.Iron-sulfur clusters: from metals through mitochondria biogenesis to disease.A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings
P2860
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P2860
A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A novel syndrome affecting mul ...... ansfer to chromosome 2p14-2p13
@nl
A novel syndrome affecting mul ...... nsfer to chromosome 2p14-2p13.
@ast
A novel syndrome affecting mul ...... nsfer to chromosome 2p14-2p13.
@en
type
label
A novel syndrome affecting mul ...... ansfer to chromosome 2p14-2p13
@nl
A novel syndrome affecting mul ...... nsfer to chromosome 2p14-2p13.
@ast
A novel syndrome affecting mul ...... nsfer to chromosome 2p14-2p13.
@en
prefLabel
A novel syndrome affecting mul ...... ansfer to chromosome 2p14-2p13
@nl
A novel syndrome affecting mul ...... nsfer to chromosome 2p14-2p13.
@ast
A novel syndrome affecting mul ...... nsfer to chromosome 2p14-2p13.
@en
P2093
P2860
P3181
P356
P1476
A novel syndrome affecting mul ...... nsfer to chromosome 2p14-2p13.
@en
P2093
A Feigenbaum
A P Cuthbert
B H Robinson
D Gonzalez-Halphen
R F Newbold
P2860
P304
P3181
P356
10.1086/318196
P407
P577
2001-01-10T00:00:00Z