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IMMP2L encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. De plus, nous expédions IMMP2L Anticorps (28) et IMMP2L Kits (2) et beaucoup plus de produits pour cette protéine.
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While the IMMP2L deletions carried non-recurrent breakpoints, in contrast to previous reports, meta-analysis found no evidence of association (P > 0.05) between IMMP2L deletions and ASD. We also observed common exonic deletions impacting IMMP2L in a separate control (5,971 samples) cohort where subjects were screened for psychiatric conditions.
data would indicate that deletions involving the IMMP2L gene may contribute to the development of a subgroup of cognitive/behavioral disorders
Deficiency of IMMP2L in cells cultured under hypoxia and high glucose, exacerbated neuronal death.
Chromosomal breakpoints involved the IMMP2L gene in 7q31 is associated with Diffuse Large B-Cell Lymphomas.
IMMP2L transcription requires Topoisomerase I in human primary astrocytes
genomic rearrangements affecting IMMP2L may be one of the predisposing factors involved in Tourette syndrome and overlapping neurodevelopmental disorders.
Five genes have been directly disrupted in Tourette Syndrome by independent genomic rearrangements and copy number variations with unique breakpoints.
AUTS1/AUTS5 linkage to immp2l-dock4 may be involved in autism susceptibility
The results indicate that IMP2 deficiency delayed bone remodeling by significantly inhibiting the activity of osteoclasts and impairing their adhesion.
data suggest that respiratory deficiency is not the cause of the observed Immp2l mutant phenotypes.
provides evidence for a causal role of oxidative stress in neurodegeneration of Immp2l mutant mice
IMP2 as a developmental stage-dependent regulator of the differentiation potentials of NPCs in the mouse neocortex.
This study demomistrated that Immp2l deficiency increases ischemic brain damage by enhancing O(2)(-) production and damaging mitochondrial functional performance.
Mitochondrial peptidase IMMP2L mutation causes early onset of age-associated disorders and impairs adult stem cell self-renewal
This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene.
mitochondrial inner membrane protease subunit 2
, inner mitochondrial membrane peptidase 2 like
, IMP2-like protein