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The protein encoded by NHLRC1 is a single subunit E3 ubiquitin ligase. 再加上，我们可以发NHLRC1 抗体 (67) 和 NHLRC1 蛋白 (4)和数多这个蛋白质的别的产品。
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Malin promotes its own degradation via auto-ubiquitination.Malin preferentially degrades the phosphatase-inactive laforin (显示 EPM2A ELISA试剂盒) monomer.
laforin/malin complex is able to interact with and ubiquitinate both PKM1 and PKM2
Lafora disease proteins laforin (显示 EPM2A ELISA试剂盒) and malin negatively regulate the HIPK2 (显示 HIPK2 ELISA试剂盒)-p53 (显示 TP53 ELISA试剂盒) cell death pathway.
This study demonistrated that NHLRC1 mutations were detected in some case of Mild Lafora disease patients.
Without functional laforin (显示 EPM2A ELISA试剂盒)-malin complex assembled on polyglucosan bodies, polyglucosan is not degraded.
Malin regulates the recruitment of mRNA-decapping enzyme 1A (Dcp1a (显示 DCP1A ELISA试剂盒)) to processing bodies.
Malin forms a functional complex with laforin (显示 EPM2A ELISA试剂盒). This complex promotes the ubiquitination of proteins involved in glycogen (显示 GYS1 ELISA试剂盒) metabolism and misregulation of pathways involved in this process results in Lafora body formation. (Review)
This study identified that NHLRC1 gene mutations leading to Lafora disease in six Turkish families.
Our results indicate that malin regulates Wnt (显示 WNT2 ELISA试剂盒) signaling pathway through the degradation of dishevelled2 and suggest possible deregulation of Wnt (显示 WNT2 ELISA试剂盒) signaling in Lafora disease.
Mutations in the NHL repeat containing 1 (NHLRC1) gene are described in association with a more benign clinical course and later age of death in an adolescent patient.
This study also suggests a malin function independent of laforin (显示 EPM2A ELISA试剂盒), possibly in lysosomal biogenesis and/or lysosomal glycogen (显示 GYS1 ELISA试剂盒) disposal.
Results indicate that malin has no effect on whole-body glucose metabolism and insulin (显示 INS ELISA试剂盒) sensitivity.
Dysfunction of autophagy is a common feature of both laforin (显示 EPM2A ELISA试剂盒)- and malin-deficient mice.
malin functions to regulate laforin (显示 EPM2A ELISA试剂盒) and that malin deficiency at least in part causes LB and LD through increased laforin (显示 EPM2A ELISA试剂盒) binding to glycogen (显示 GYS1 ELISA试剂盒).
Results show that a functional laforin (显示 EPM2A ELISA试剂盒)-malin complex plays a critical role in disrupting Lafora bodies and relieving endoplasmic reticulum stres.
Motor coordination, activity impairment, and memory deficits progressively increase with age in Epm2b deficient mice.
Data conclude that EPM2B functions to maintain laforin (显示 EPM2A ELISA试剂盒) associated with soluble glycogen (显示 GYS1 ELISA试剂盒) and that its absence causes sequestration of laforin (显示 EPM2A ELISA试剂盒) to an insoluble polysaccharide fraction where it is functionally inert.
laforin (显示 EPM2A ELISA试剂盒) and malin play a role protecting cells from ER-stress, likely contributing to the elimination of unfolded proteins
The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).
NHL repeat containing 1
, thiopurine methyltransferase
, NHL repeat-containing protein 1
, E3 ubiquitin-protein ligase NHLRC1
, NHL repeat-containing protein 1-like