[HTML][HTML] Calcium channelopathies and intellectual disability: a systematic review

M Kessi, B Chen, J Peng, F Yan, L Yang… - Orphanet journal of rare …, 2021 - Springer
Background Calcium ions are involved in several human cellular processes including
corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between …

The SNAP-25 protein family

A Kádková, J Radecke, JB Sørensen - Neuroscience, 2019 - Elsevier
SNARE-complexes drive the fusion of membrane-bound vesicles with target membranes or
with each other (homotypic fusion). The SNARE-proteins are subdivided into Q a, Q b, Q c …

[HTML][HTML] A Cav3. 2/syntaxin-1A signaling complex controls T-type channel activity and low-threshold exocytosis

N Weiss, S Hameed, JM Fernández-Fernández… - Journal of Biological …, 2012 - ASBMB
T-type calcium channels represent a key pathway for Ca 2+ entry near the resting
membrane potential. Increasing evidence supports a unique role of these channels in fast …

The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families

ME Hiekkala, P Vuola, V Artto, P Häppölä… - …, 2018 - journals.sagepub.com
Objective To study the position of hemiplegic migraine in the clinical spectrum of migraine
with aura and to reveal the importance of CACNA1A, ATP1A2 and SCN1A in the …

[HTML][HTML] SNARE modulators and SNARE mimetic peptides

M Khvotchev, M Soloviev - Biomolecules, 2022 - mdpi.com
The soluble N-ethylmaleimide-sensitive factor (NSF) attachment protein (SNAP) receptor
(SNARE) proteins play a central role in most forms of intracellular membrane trafficking, a …

[HTML][HTML] LRRK2 regulates voltage-gated calcium channel function

C Bedford, C Sears, M Perez-Carrion… - Frontiers in Molecular …, 2016 - frontiersin.org
Voltage-gated Ca2+ (CaV) channels enable Ca2+ influx in response to membrane
depolarization. CaV2. 1 channels are localized to the presynaptic membrane of many types …

Rare CACNA1A mutations leading to congenital ataxia

M Izquierdo-Serra, JM Fernández-Fernández… - … -European Journal of …, 2020 - Springer
Human mutations in the CACNA1A gene that encodes the pore-forming α 1A subunit of the
voltage-gated Ca V 2.1 (P/Q-type) Ca 2+ channel cause multiple neurological disorders …

[HTML][HTML] TRPM5-mediated calcium uptake regulates mucin secretion from human colon goblet cells

S Mitrovic, C Nogueira, G Cantero-Recasens, K Kiefer… - Elife, 2013 - elifesciences.org
Mucin 5AC (MUC5AC) is secreted by goblet cells of the respiratory tract and, surprisingly,
also expressed de novo in mucus secreting cancer lines. siRNA-mediated knockdown of …

[HTML][HTML] The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a …

MA Gandini, IA Souza, L Ferron, AM Innes… - Molecular Brain, 2021 - Springer
CACNA1A pathogenic variants have been linked to several neurological disorders including
familial hemiplegic migraine and cerebellar conditions. More recently, de novo variants have …

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies

O Carreño, R Corominas, SA Serra… - Molecular genetics & …, 2013 - Wiley Online Library
Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine,
characterized by a complex aura including some degree of motor weakness. Mutations in …