Disruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion disease.

Disruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion disease.

Copper influences the pathogenesis of prion disease, but whether it is beneficial or detrimental remains controversial. Copper homeostasis is also essential for normal physiology, as highlighted by the spectrum of diseases caused by disruption of the copper transporting enzymes ATP7A and ATP7B. Here...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Siggs, O, Cruite, J, Du, X, Rutschmann, S, Masliah, E, Beutler, B, Oldstone, M
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	2012

Παρόμοια τεκμήρια

X-linked cholestasis in mouse due to mutations of the P4-ATPase ATP11C.
ανά: Siggs, O, κ.ά.
Έκδοση: (2011)

Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis
ανά: Jonathon eTelianidis, κ.ά.
Έκδοση: (2013-08-01)

Physiological role of Prion Protein in Copper homeostasis and angiogenic mechanisms of endothelial cells
ανά: De Riccardis Lidia, κ.ά.
Έκδοση: (2019-04-01)

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
ανά: Karin Tuschl, κ.ά.
Έκδοση: (2016-05-01)

Prions, protein homeostasis, and phenotypic diversity
ανά: Lindquist, Susan, κ.ά.
Έκδοση: (2010)

Toxic accumulation of copper and neuropsychiatric symptoms due to a familial tunisian compound heterozygous ATP7B missense mutation
ανά: N. Abdelmoula
Έκδοση: (2021-04-01)

Early onset prion disease from octarepeat expansion correlates with copper binding properties.
ανά: Daniel J Stevens, κ.ά.
Έκδοση: (2009-04-01)

Defining the conformational features of anchorless, poorly neuroinvasive prions.
ανά: Cyrus Bett, κ.ά.
Έκδοση: (2013-01-01)

Copper refolding of prion protein.
ανά: Wong, B, κ.ά.
Έκδοση: (2000)

Dextran-Catechin inhibits angiogenesis by disrupting copper homeostasis in endothelial cells
ανά: Eugene M. H. Yee, κ.ά.
Έκδοση: (2017-08-01)

Analysis of Wilson disease mutations in copper binding domain of ATP7B gene.
ανά: Bushra Gul, κ.ά.
Έκδοση: (2022-01-01)

CRISPR/Cas9-mediated correction of mutated copper transporter ATP7B
ανά: Michael Pöhler, κ.ά.
Έκδοση: (2020-01-01)

ATP1A3 Mutation in Adult Rapid-Onset Ataxia.
ανά: Kathleen J Sweadner, κ.ά.
Έκδοση: (2016-01-01)

Mutation and selection of prions.
ανά: Charles Weissmann
Έκδοση: (2012-01-01)

Titanium dioxide and carbon black nanoparticles disrupt neuronal homeostasis via excessive activation of cellular prion protein signaling
ανά: Luiz W. Ribeiro, κ.ά.
Έκδοση: (2022-07-01)

Copper coordination modulates prion conversion and infectivity in mammalian prion proteins
ανά: Giuseppe Legname
Έκδοση: (2023-12-01)

The P4-type ATPase ATP11C is essential for B lymphopoiesis in adult bone marrow.
ανά: Siggs, O, κ.ά.
Έκδοση: (2011)

Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease
ανά: Teresa Ximelis, κ.ά.
Έκδοση: (2021-10-01)

Biallelic Mutations in ACACA Cause a Disruption in Lipid Homeostasis That Is Associated With Global Developmental Delay, Microcephaly, and Dysmorphic Facial Features
ανά: Xiaoting Lou, κ.ά.
Έκδοση: (2021-09-01)

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
ανά: Charlotte Gehin, κ.ά.
Έκδοση: (2023-05-01)

The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease
ανά: Nadine Bakkar, κ.ά.
Έκδοση: (2021-02-01)

The BTB-ZF transcription factors.
ανά: Siggs, O, κ.ά.
Έκδοση: (2012)

Structural Consequences of Copper Binding to the Prion Protein
ανά: Giulia Salzano, κ.ά.
Έκδοση: (2019-07-01)

The functional links between prion protein and copper
ανά: LORENA VARELA-NALLAR, κ.ά.
Έκδοση: (2006-01-01)

Role of the prion protein in copper turnover in astrocytes
ανά: David R Brown
Έκδοση: (2004-04-01)

Abnormal brain iron homeostasis in human and animal prion disorders.
ανά: Ajay Singh, κ.ά.
Έκδοση: (2009-03-01)

Mitochondrial flashes regulate ATP homeostasis in the heart
ανά: Xianhua Wang, κ.ά.
Έκδοση: (2017-07-01)

Early-onset Alzheimer’s disease patient with prion (PRNP) p.Val180Ile mutation
ανά: Bagyinszky E, κ.ά.
Έκδοση: (2019-07-01)

Association of the canine ATP7A and ATP7B with hepatic copper accumulation in Dobermann dogs
ανά: Xiaoyan Wu, κ.ά.
Έκδοση: (2019-07-01)

Detection of prion infectivity in fat tissues of scrapie-infected mice.
ανά: Brent Race, κ.ά.
Έκδοση: (2008-12-01)

Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations
ανά: Babu Lal Kumawat, κ.ά.
Έκδοση: (2016-01-01)

Lesion of the olfactory epithelium accelerates prion neuroinvasion and disease onset when prion replication is restricted to neurons.
ανά: Jenna Crowell, κ.ά.
Έκδοση: (2015-01-01)

Late onset hereditary sensory and autonomic neuropathy with cognitive impairment associated with Y163X prion mutation.
ανά: Themistocleous, A, κ.ά.
Έκδοση: (2014)

Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation
ανά: Jaffer, F, κ.ά.
Έκδοση: (2017)

A childhood ⁃ onset rapid ⁃ onset dystonia Parkinsonism patient with ATP1A3 gene mutation and literature review
ανά: KANG Qing⁃yun, κ.ά.
Έκδοση: (2021-04-01)

Prion protein promotes copper toxicity in Wilson disease
ανά: Raffaella Petruzzelli, κ.ά.
Έκδοση: (2025-02-01)

Propagation of RML prions in mice expressing PrP devoid of GPI anchor leads to formation of a novel, stable prion strain.
ανά: Sukhvir Paul Mahal, κ.ά.
Έκδοση: (2012-01-01)

Maturity-onset diabetes of the young due to gene mutation
ανά: Hae In Lee, κ.ά.
Έκδοση: (2023-12-01)

Delayed-onset and long-lasting severe neutropenia due to rituximab
ανά: Swiss Medical Weekly
Έκδοση: (2004-02-01)

Dissecting mammalian immunity through mutation
ανά: Siggs, O
Έκδοση: (2014)