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Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies.
AOA2 (zeige SETX Proteine) with myoclonus associated with mutations in SETX (zeige SETX Proteine) and AFG3L2
This study that AFG3L2 mutations are another important cause, albeit rare, of a late-onset ataxic PEO (zeige POLG Proteine) phenotype due to a disturbance of mtDNA maintenance.
StAR proteolysis is executed by at least 2 mitochondrial proteases, the matrix LON (zeige LONP1 Proteine) protease and the inner membrane complexes of the metalloproteases AFG3L2 and AFG3L2:SPG7/paraplegin (zeige SPG7 Proteine).
Here, we report on a novel AFG3L2 mutation in a patient with slowly progressive ataxia and a positive family history.
Identification of a partial AFG3L2 deletion and subsequent functional studies reveal loss of function as the most likely disease mechanism.
Both full-length and truncated COX1 proteins physically interact with AFG3L2.
These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias.
The mutations of SCA28 are associated with amino acid changes in evolutionarily conserved residues of the alleged SCA28 gene, and indicate SCA28 as the sixth recognized SCA genotype caused by point mutations.
We further confirm both the involvement of AFG3L2 gene in Spinocerebellar ataxia type 28 (SCA28) and the presence of a mutational hotspot in exons 15-16.
total ablation of the m-AAA protease, by deleting both Afg3l2 and its paralogue Afg3l1, triggers progressive motor dysfunction and demyelination, owing to rapid oligodendrocyte cell death
AFG3L2 is critical to the surveillance mechanism that acts as a sensor to couple the synthesis of mitochondrial proteins with organelle fitness, thus ensuring coordinated assembly of the oxidative phosphorylation complexes from two sets of ribosomes.
defective mitochondrial protein (zeige COX6B2 Proteine) synthesis, leading to early-onset fragmentation of the mitochondrial network, is a central causative factor in AFG3L2-related neurodegeneration.
These findings shed new light in the molecular mechanisms underlining neurodegeneration caused by AFG3L2 mutations.
Data show that Afg3l1 or Afg3l2 are required for maturation of newly imported paraplegin subunits after their cleavage by MPP.
AFG3L2 mutant mouse models display a marked impairment of axonal development with delayed myelination and poor axonal growth.
Spg7 (zeige SPG7 Proteine) and Afg3l2 double mutants show an early-onset ataxic phenotype, indicating a role of the m-AAA (zeige AAAS Proteine) proteases in cerebellar degeneration.
demonstrate that cerebellum is the neuronal tissue with the highest susceptibility to reduced Afg3l2 dosage; propose that the Afg3l2 heterozygous mouse is an excellent model to unravel the pathological cascade leading to spinocerebellar ataxia type 28
This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders.
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
, AFG3 ATPase family gene 3-like 2
, AFG3 ATPase family gene 3-like 2-like
, AFG3-like protein 2-like
, AFG3-like protein 2
, AFG3-like protein 2 (Paraplegin-like protein)
, ATPase family gene 3, yeast
, paraplegin-like protein