Early Onset Diabetes in Two Children due to Progeria, a Monogenic Disease of DNA Repair

Holder, Martin; Schwitzgebel, Valérie

doi:10.4274/jcrpe.galenos.2019.2019.0126

Cited by 3 publications

(1 citation statement)

References 12 publications

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“…These results are consistent with a model where functional BK channels that normally partition between plasma membranes and nuclear envelopes become overexpressed in plasma membranes when nuclear envelopes are genetically disrupted. Overexpression of BK channels in plasma membranes of HGPS patients may inhibit normal activation of pancreatic beta cells in response to glucose, conferring susceptibility to diabetes [40].…”

Section: Discussionmentioning

confidence: 99%

Calcium-activated big conductance (BK) potassium channels traffic through nuclear envelopes into kinocilia in skate electrosensory cells

Chen

Shi

et al. 2022

Preprint

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Electroreception through ampullae of Lorenzini in the little skate, Leucoraja erinacea, involves functional coupling between voltage-activated calcium channels (CaV1.3, cacna1d) and calcium-activated big conductance potassium (BK) channels (BK, kcnma1). Whole mount confocal microscopy was used to characterize expression of BK and CaV1.3 in intact ampullae. BK and CaV1.3 are present in electrosensory cell plasma membranes and colocalize with lamin B1 in nuclear envelopes and kinocilia. Predicted nuclear localization signals (NLS) were identified in BK and CaV1.3 by bioinformatic sequence analyses. The BK NLS is bipartite, occurs at an alternative splice site for the mammalian STREX exon and is modified by post-translational phosphorylation. Nuclear localization of skate BK channels was characterized in heterologously-transfected HEK293 cells. Double point mutations in the bipartite NLS (KR to AA, or SVLS to AVLA) independently attenuated BK channel nuclear localization, illustrating that BK trafficking into nuclei and electrosensory cell kinocilia is regulated through a newly identified bipartite NLS.

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Section: Discussionmentioning

confidence: 99%

Calcium-activated big conductance (BK) potassium channels traffic through nuclear envelopes into kinocilia in skate electrosensory cells

Chen

Shi

et al. 2022

Preprint

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The challenges of diagnosing diabetes in childhood

et al. 2020

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Diabetes is one of the most prevalent diseases worldwide, whereby type 1 diabetes mellitus (T1DM) alone involves nearly 15 million patients. Although T1DM and type 2 diabetes mellitus (T2DM) are the most common types, there are other forms of diabetes which may remain often under-diagnosed, or that can be misdiagnosed as being T1DM or T2DM. After an initial diagnostic step, the differential diagnosis among T1DM, T2DM, Maturity-Onset Diabetes of the Young (MODY) and others forms has important implication for both therapeutic and behavioral decisions. Although the criteria used for diagnosing diabetes mellitus are well defined by the guidelines of the American Diabetes Association (ADA), no clear indications are provided on the optimal approach to be followed for classifying diabetes, especially in children. In this circumstance, both routine and genetic blood test may play a pivotal role. Therefore, the purpose of this article is to provide, through a narrative literature review, some elements that may aid accurate diagnosis and classification of diabetes in children and young people.

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Calcium-Activated Big-Conductance (BK) Potassium Channels Traffic through Nuclear Envelopes into Kinocilia in Ray Electrosensory Cells

Chen,

Wu,

Shi

et al. 2023

Cells

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Electroreception through ampullae of Lorenzini in the little skate, Leucoraja erinacea, involves functional coupling between voltage-activated calcium channels (CaV1.3, cacna1d) and calcium-activated big-conductance potassium (BK) channels (BK, kcnma1). Whole-mount confocal microscopy was used to characterize the pleiotropic expression of BK and CaV1.3 in intact ampullae. BK and CaV1.3 are co-expressed in electrosensory cell plasma membranes, nuclear envelopes and kinocilia. Nuclear localization sequences (NLS) were predicted in BK and CaV1.3 by bioinformatic sequence analyses. The BK NLS is bipartite, occurs at an alternative splice site for the mammalian STREX exon and contains sequence targets for post-translational phosphorylation. Nuclear localization of skate BK channels was characterized in heterologously transfected HEK293 cells. Double-point mutations in the bipartite NLS (KR to AA or SVLS to AVLA) independently attenuated BK channel nuclear localization. These findings support the concept that BK partitioning between the electrosensory cell plasma membrane, nucleus and kinocilium may be regulated through a newly identified bipartite NLS.

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Early Onset Diabetes in Two Children due to Progeria, a Monogenic Disease of DNA Repair

Cited by 3 publications

References 12 publications

Calcium-activated big conductance (BK) potassium channels traffic through nuclear envelopes into kinocilia in skate electrosensory cells

Calcium-activated big conductance (BK) potassium channels traffic through nuclear envelopes into kinocilia in skate electrosensory cells

The challenges of diagnosing diabetes in childhood

Calcium-Activated Big-Conductance (BK) Potassium Channels Traffic through Nuclear Envelopes into Kinocilia in Ray Electrosensory Cells

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