gopubmed logo
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

AFG3 ATPase family gene 3-like 2

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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: AGE, CAN, ATPase, OPA1, ACID
Papers on AFG3L2
Quality control of mitochondrial protein synthesis is required for membrane integrity and cell fitness.
Battersby et al., Helsinki, Finland. In J Cell Biol, Nov 2015
The mitochondrial m-AAA protease subunit AFG3L2 is critical to this surveillance mechanism that we propose 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.
Transcriptional activation of LON Gene by a new form of mitochondrial stress: A role for the nuclear respiratory factor 2 in StAR overload response (SOR).
Orly et al., Jerusalem, Israel. In Mol Cell Endocrinol, Jul 2015
To prevent functional damage due to such protein overload effect, StAR is degraded by a sequence of three to four ATP-dependent proteases of the mitochondria protein quality control system, including LON and the m-AAA membranous proteases AFG3L2 and SPG7/paraplegin.
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Lehesjoki et al., Helsinki, Finland. In Nat Genet, 2015
Ten cases had pathogenic mutations in known PME-associated genes (NEU1, NHLRC1, AFG3L2, EPM2A, CLN6 and SERPINI1).
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model.
Casari et al., In J Clin Invest, 2015
Spinocerebellar ataxia type 28 (SCA28) is a neurodegenerative disease caused by mutations of the mitochondrial protease AFG3L2.
Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.
Taylor et al., Newcastle upon Tyne, United Kingdom. In Jama Neurol, 2015
OBSERVATIONS: Whole-exome sequencing identified a novel, heterozygous p.(Gly671Trp) mutation in the AFG3L2 gene encoding an mt protease--previously associated with dominant spinocerebellar ataxia type 28 disease--in a patient with indolent ataxia and PEO.
Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.
Bürk et al., Lübeck, Germany. In Cerebellum Ataxias, 2014
BACKGROUND: Spinocerebellar ataxia type 28 (SCA28) is related to mutations of the ATPase family gene 3-like 2 gene (AFG3L2).
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
Brusco et al., Torino, Italy. In Bmc Med Genet, 2014
RESULTS: Exome sequencing identified a homozygous c.6292C > T (p.Arg2098*) mutation in SETX and a heterozygous c.346G > A (p.Gly116Arg) mutation in AFG3L2 shared by all three affected individuals.
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
Lenaers et al., Montpellier, France. In Front Genet, 2014
OPA1 cleavage is regulated by two m-AAA proteases, SPG7 and AFG3L2, which are, respectively involved in Spastic Paraplegia 7 and Spino-Cerebellar Ataxia 28.
The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.
Shoubridge et al., Montréal, Canada. In Hum Mol Genet, 2014
The complex I assembly defect was characterized by rapid, AFG3L2-dependent, turnover of newly synthesized ND1, the subunit that seeds the assembly pathway, and by decreased steady-state levels of several other structural subunits including NDUFS2, NDUFS1 and NDUFA9.
Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.
De Jonghe et al., Gent, Belgium. In Neurology, 2014
OBJECTIVE: To identify the genetic cause of autosomal dominant spinocerebellar ataxia type 28 (SCA28) with ptosis in 2 Belgian families without AFG3L2 point mutations and further extend the clinical spectrum of SCA28 through the study of a brain autopsy, advanced MRI, and cell-based functional assays exploring the underlying disease mechanism.
[The genetics of spinocerebellar ataxias].
Klockgether et al., Bonn, Germany. In Nervenarzt, 2013
In Germany particularly SCA1, SCA2, SCA3 and SCA6 are prevalent, as well as the less frequent subtypes SCA5, SCA14, SCA15, SCA17 and SCA28.
Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly.
Wiesner et al., Köln, Germany. In Embo J, 2012
Both full-length and truncated COX1 proteins physically interact with AFG3L2.
Spinocerebellar ataxia type 28.
Taroni et al., Milano, Italy. In Handb Clin Neurol, 2011
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.
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
Toro et al., Bethesda, United States. In Plos Genet, 2011
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.
Spinocerebellar Ataxia Type 28
Dürr et al., Seattle, United States. In Unknown Journal, 2011
DIAGNOSIS/TESTING: No features of SCA28 are pathognomonic; therefore, diagnosis depends on molecular genetic testing of AFG3L2, the only gene in which mutation is known to cause SCA28.
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.
Wszolek et al., Johnson City, United States. In Orphanet J Rare Dis, 2010
To date, 21 subtypes have been identified: SCA1-SCA4, SCA8, SCA10, SCA12-SCA14, SCA15/16, SCA17-SCA23, SCA25, SCA27, SCA28 and dentatorubral pallidoluysian atrophy (DRPLA).
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
Brusco et al., Torino, Italy. In Hum Mutat, 2010
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.
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Durr, Paris, France. In Lancet Neurol, 2010
All other SCAs are caused by either conventional mutations or large rearrangements in genes with different functions, including glutamate signalling (SCA5/SPTBN2) and calcium signalling (SCA15/16/ITPR1), channel function (SCA13/KCNC3, SCA14/PRKCG, SCA27/FGF14), tau regulation (SCA11/TTBK2), and mitochondrial activity (SCA28/AFG3L2) or RNA alteration (SCA31/BEAN-TK2).
Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
Zühlke et al., Lübeck, Germany. In Eur J Hum Genet, 2010
in spinocerebellar ataxia type 28 patients study found novel missense mutation at an evolutionarily conserved amino-acid position; amino-acid exchange p.E700K was detected in a 4-generation family and was not observed in chromosomes of controls
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Taroni et al., Milano, Italy. In Nat Genet, 2010
work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegeneration.
share on facebooktweetadd +1mail to friends