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A novel missense mutation (c.1578G>C/p.Q526H) of DPP6 was identified and co-segregated with affected patients in a family with suspicious idiopathic ventricular fibrillation.
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These data suggest that the proband's autism may be due to the inheritance of disruptions in both DPP6 and LRRC4C, and may highlight the importance of the netrin G family and potassium channel interacting molecules in neurodevelopmental disorders.
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we expanded our knowledge of familial IVF linked to the DPP6 gene and discuss its (extended) clinical characteristics. In addition, its relationship with the Purkinje network is further explored.
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This first familial case provides evidence for association between DPP6 haploinsufficiency and Gilles de la Tourette syndrome.
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the cysteine-rich domain of DPP6 plays an important role in protein folding of DPP6 that is required for transport of DPP6/Kv4.2 complexes out of the ER
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DPP6 is critical for synaptic integration and excitation.
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Two DPP6 de novo deletions and one missense mutation in familial microcephalic patients were identified.
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WT PrP(C), in a DPP6-dependent manner, modulated Kv4.2 channel properties, causing an increase in peak amplitude
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Findings of this study indicate that an altered response of Kv4/DPP6 to long-term neuroleptic administration is involved in neuroleptic-induced TD.
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DPP6-mediated Purkinje fibers early-repolarization syndrome might be a novel molecular paradigm for some forms of idiopathic ventricular fibrillation.
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These results, inflated by the limited sample size determined by the rarity of this condition, suggest a possible role of this gene in the susceptibility to PrMS, at least in Southern Europeans.
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Antibodies to DPPX are associated with a protracted encephalitis characterized by central nervous system hyperexcitability.
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Results showed that DPP6, SPHKAP and ID4 were down regulated in acute myeloid leukemia (AML) patients.
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There was no evidence of association of dipeptidyl-peptidase 6 alleles with amyotrophic lateral sclerosis. Our negative results agree with those recently reported in additional Polish and Italian cohorts.
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KV4.2 channel fast inactivation induced by DPP10a or DPP6a is mediated by a common N-terminal inactivation motif via a pore-blocking mechanism.
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a genome-wide association study of amyotrophic lateral sclerosis identified the DPP6 locus as a candidate for more in-depth studies
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This study indicated that mutations in dpp6 genes are unlikely to be a common cause of ALS in the French and French Canadian populations.
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DPP6 expression seems to be critical for the expression of a high-frequency electrophysiological phenotype in cerebellar granule cells by increasing leak conductance, A-type current levels and kinetics, and Na(+) current amplitude.
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The rs10260404 polymorphism is not associated with an increased risk of sporadic amyotrophic lateral sclerosis in Chinese patients.
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DPPX is an essential component of the native cardiac I(to) channel complex in human heart
