Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
about
Genomic organization of ATOX1, a human copper chaperoneBiochemical characterization and intracellular localization of the Menkes disease proteinSimilar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndromeAutosomal recessive cutis laxa syndrome revisitedNeonatal diagnosis and treatment of Menkes diseaseMissense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyThe pathobiology of splicingMolecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesA C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome familyIdentification of point mutations in 41 unrelated patients affected with Menkes diseaseTranslational research investigations on ATP7A: an important human copper ATPaseThe Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake.Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes diseaseMolecular genetics and pathophysiology of Menkes diseaseDisruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion diseaseATP7A-related copper transport diseases-emerging concepts and future trendsA novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes diseaseConditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesisAbnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes diseaseDefective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes diseaseRemodeling and homeostasis of the extracellular matrix: implications for fibrotic diseases and cancer.Epilepsy in Ehlers-Danlos syndrome.Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.The interactome of the copper transporter ATP7A belongs to a network of neurodevelopmental and neurodegeneration factors.Paul Dyken Lecture of the Southern Pediatric Neurology Society. Inherited neurodegenerative disease: the evolution of our thinking.Menkes disease: recent advances and new aspectsATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A.Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.Splice site mutations in the ATP7A gene.Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxaInherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment.Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.Inborn errors of copper metabolism.Research challenges in central nervous system manifestations of inborn errors of metabolismFunctional copper transport explains neurologic sparing in occipital horn syndrome.Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.Menkes disease presenting with epilepsia partialis continuaFavorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.Molecular correlates of epilepsy in early diagnosed and treated Menkes diseaseDrug targets in Menkes disease - prospective developments.
P2860
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P2860
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
description
1994 nî lūn-bûn
@nan
1994 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Occipital horn syndrome and a ...... ite mutations at the MNK locus
@ast
Occipital horn syndrome and a ...... ite mutations at the MNK locus
@en
Occipital horn syndrome and a ...... ite mutations at the MNK locus
@nl
type
label
Occipital horn syndrome and a ...... ite mutations at the MNK locus
@ast
Occipital horn syndrome and a ...... ite mutations at the MNK locus
@en
Occipital horn syndrome and a ...... ite mutations at the MNK locus
@nl
prefLabel
Occipital horn syndrome and a ...... ite mutations at the MNK locus
@ast
Occipital horn syndrome and a ...... ite mutations at the MNK locus
@en
Occipital horn syndrome and a ...... ite mutations at the MNK locus
@nl
P2093
P2860
P356
P1433
P1476
Occipital horn syndrome and a ...... ite mutations at the MNK locus
@en
P2093
C S Holmes
D S Goldstein
P2860
P2888
P304
P356
10.1038/NG1094-195
P407
P577
1994-10-01T00:00:00Z