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AFG3L2 encodes a protein localized in mitochondria and closely related to paraplegin. Additionally we are shipping AFG3L2 Kits (4) and AFG3L2 Proteins (4) and many more products for this protein.
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Human Polyclonal AFG3L2 Primary Antibody for IHC (p), WB - ABIN657143
Edener, Wöllner, Hehr, Kohl, Schilling, Kreuz, Bauer, Bernard, Gillessen-Kaesbach, Zühlke: Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. in European journal of human genetics : EJHG 2010
Show all 3 references for ABIN657143
Chicken Polyclonal AFG3L2 Primary Antibody for WB - ABIN2782736
Banfi, Bassi, Andolfi, Marchitiello, Zanotta, Ballabio, Casari, Franco: Identification and characterization of AFG3L2, a novel paraplegin-related gene. in Genomics 1999
Deletion of AFG3L2 associated with spinocerebellar ataxia (show USP14 Antibodies) type 28 in the context of multiple genomic anomalies.
AOA2 (show SETX Antibodies) with myoclonus associated with mutations in SETX (show SETX Antibodies) and AFG3L2
This study that AFG3L2 mutations are another important cause, albeit rare, of a late-onset ataxic PEO (show POLG Antibodies) phenotype due to a disturbance of mtDNA maintenance.
StAR proteolysis is executed by at least 2 mitochondrial proteases, the matrix LON (show LONP1 Antibodies) protease and the inner membrane complexes of the metalloproteases AFG3L2 and AFG3L2:SPG7/paraplegin (show SPG7 Antibodies).
Here, we report on a novel AFG3L2 mutation in a patient with slowly progressive ataxia (show USP14 Antibodies) 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 (show COX1 Antibodies) 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 (show USP14 Antibodies) type 28 (SCA28) and the presence of a mutational hotspot in exons 15-16.
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 (show COX6B2 Antibodies) 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 (show SPG7 Antibodies) and Afg3l2 double mutants show an early-onset ataxic phenotype, indicating a role of the m-AAA (show AAAS Antibodies) 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 (show USP14 Antibodies) 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