(Q45922719)

English

Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration.

scientific article published in July 2009

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scholarly article

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3 February 2020

Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration (English)

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3 February 2020

haploinsufficiency

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spinocerebellar ataxia type 28

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Angelo Quattrini

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3 February 2020

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3 February 2020

author name string

Francesca Maltecca

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3 February 2020

Raffaella Magnoni

2

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3 February 2020

Federica Cerri

3

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3 February 2020

Gregory A Cox

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1 July 2009

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3 February 2020

Journal of Neuroscience

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3 February 2020

29

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29

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3 February 2020

9244-9254

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3 February 2020

Characterization of progressive motor deficits in mice transgenic for the human Huntington's disease mutation.

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https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Chaperone-like activity of the AAA domain of the yeast Yme1 AAA protease

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https://pubmed.ncbi.nlm.nih.gov/19625515

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Glutamate-induced neuron death requires mitochondrial calcium uptake

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https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Behavioral phenotyping of transgenic and knockout mice: experimental design and evaluation of general health, sensory functions, motor abilities, and specific behavioral tests

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https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Epitope-tagged P(0) glycoprotein causes Charcot-Marie-Tooth-like neuropathy in transgenic mice.

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https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Hypoxia induces an excitotoxic-type of dark cell degeneration in cerebellar Purkinje neurons

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https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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The molecular organization of cerebellar long-term depression

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Spatial learning, exploration, anxiety, and motor coordination in female APP23 transgenic mice with the Swedish mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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A mouse model of episodic ataxia type-1

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Interactions between mitochondrial bioenergetics and cytoplasmic calcium in cultured cerebellar granule cells.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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A note on a simple apparatus for detecting neurological deficit in rats and mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Patterned Purkinje cell death in the cerebellum

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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AMPA-induced dark cell degeneration of cerebellar Purkinje neurons involves activation of caspases and apparent mitochondrial dysfunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Recent advances in the analysis of oxidized proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Transgenic mice expressing F3/contactin from the transient axonal glycoprotein promoter undergo developmentally regulated deficits of the cerebellar function.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Cellular and genetic regulation of the development of the cerebellar system

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Cerebellar ataxia and Purkinje cell dysfunction caused by Ca2+-activated K+ channel deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Calcium, ATP, and ROS: a mitochondrial love-hate triangle

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Role of oxidative carbonylation in protein quality control and senescence

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Activation of the p38MAPK cascade is associated with upregulation of TNF alpha receptors in the spinal motor neurons of mouse models of familial ALS.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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Spectrin mutations cause spinocerebellar ataxia type 5.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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The role of mitochondria in inherited neurodegenerative diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Mitochondrial disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

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Mitochondria: more than just a powerhouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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Mitochondrial trafficking and morphology in healthy and injured neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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Protein degradation within mitochondria: versatile activities of AAA proteases and other peptidases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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Cytoskeletal protein carbonylation and degradation in experimental autoimmune encephalomyelitis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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The mitochondrial protease AFG3L2 is essential for axonal development

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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How mitochondria produce reactive oxygen species

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Mitochondria in neuroplasticity and neurological disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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Determination of carbonyl content in oxidatively modified proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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One trial learning in the mouse. I. Its characteristics and modification by experimental-seasonal variables

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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Analysis of molecular masses and oligomeric states of protein complexes by blue native electrophoresis and isolation of membrane protein complexes by two-dimensional native electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dynamics of mitochondria in living cells: shape changes, dislocations, fusion, and fission of mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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Altered adult sexual behavior in the male rat following chronic prenatal hypoxia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beta 4 integrin and other Schwann cell markers in axonal neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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The formation of respiratory chain complexes in mitochondria is under the proteolytic control of the m-AAA protease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

based on heuristic

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The process of ultrastructural changes from nuclei to apoptotic body

1 reference

https://pubmed.ncbi.nlm.nih.gov/19625515

12 December 2020

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Identifiers

10.1523/JNEUROSCI.1532-09.2009

1 reference

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3 February 2020

1 reference

Europe PubMed Central

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3 February 2020

1 reference

Europe PubMed Central

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3 February 2020

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