Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy
about
The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIαFibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinMenkes disease: what a multidisciplinary approach can doCopper Homeostasis as a Therapeutic Target in Amyotrophic Lateral Sclerosis with SOD1 MutationsMottled Mice and Non-Mammalian Models of Menkes DiseaseTranslational research investigations on ATP7A: an important human copper ATPaseCellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disordersMolecular basis of neurodegeneration and neurodevelopmental defects in Menkes diseaseDisruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion diseaseCopper delivery to the CNS by CuATSM effectively treats motor neuron disease in SOD(G93A) mice co-expressing the Copper-Chaperone-for-SODATP7A-related copper transport diseases-emerging concepts and future trendsConditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesisCutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolismMaternofetal and neonatal copper requirements revealed by enterocyte-specific deletion of the Menkes disease protein.A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.Polarized sorting of the copper transporter ATP7B in neurons mediated by recognition of a dileucine signal by AP-1.The interactome of the copper transporter ATP7A belongs to a network of neurodevelopmental and neurodegeneration factors.ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A.Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment.The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.Inborn errors of copper metabolism.Research challenges in central nervous system manifestations of inborn errors of metabolismFavorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.Molecular correlates of epilepsy in early diagnosed and treated Menkes diseaseWilson's disease and other neurological copper disorders.Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde traffickingClinical utility gene card for: Menkes disease.The Genetics of Spinal Muscular Atrophy: Progress and Challenges.Metal-deficient SOD1 in amyotrophic lateral sclerosis.X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuronATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse modelAltered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathyIncreased frequency of congenital heart defects in Menkes diseaseMolecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22-dependent stepsMutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis.Reduction of the number of major representative allergens: from clinical testing to 3-dimensional structures.Advances in the understanding of mammalian copper transporters.
P2860
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P2860
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy
description
2010 nî lūn-bûn
@nan
2010 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մարտին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Missense mutations in the copp ...... al hereditary motor neuropathy
@ast
Missense mutations in the copp ...... al hereditary motor neuropathy
@en
Missense mutations in the copp ...... al hereditary motor neuropathy
@nl
type
label
Missense mutations in the copp ...... al hereditary motor neuropathy
@ast
Missense mutations in the copp ...... al hereditary motor neuropathy
@en
Missense mutations in the copp ...... al hereditary motor neuropathy
@nl
prefLabel
Missense mutations in the copp ...... al hereditary motor neuropathy
@ast
Missense mutations in the copp ...... al hereditary motor neuropathy
@en
Missense mutations in the copp ...... al hereditary motor neuropathy
@nl
P2093
P2860
P50
P3181
P1476
Missense mutations in the copp ...... al hereditary motor neuropathy
@en
P2093
Bartosz Kowalski
Carlos E Speck-Martins
Dirk Fischer
Garth A Nicholson
James Y Garbern
Jingrong Tang
Julian F B Mercer
Marina L Kennerson
Michael E Shy
Philip E Taylor
P2860
P304
P3181
P356
10.1016/J.AJHG.2010.01.027
P407
P577
2010-03-12T00:00:00Z