The axon initial segment, 50 years later: a nexus for neuronal organization and function

C Leterrier - Current topics in membranes, 2016 - Elsevier
The axon initial segment is a highly specialized neuronal compartment, identified almost 50
years ago by the pioneers of electron microscopy. Located in the first 50 μm of the axon, it …

Plasma membrane repair in health and disease

AR Demonbreun, EM McNally - Current topics in membranes, 2016 - Elsevier
Since an intact membrane is required for normal cellular homeostasis, membrane repair is
essential for cell survival. Human genetic studies, combined with the development of novel …

Ankyrin G membrane partners drive the establishment and maintenance of the axon initial segment

C Leterrier, N Clerc, F Rueda-Boroni… - Frontiers in Cellular …, 2017 - frontiersin.org
The axon initial segment (AIS) is a highly specialized neuronal compartment that plays a key
role in neuronal development and excitability. It concentrates multiple membrane proteins …

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy

K Poirier, L Hubert, G Viot, M Rio, P Billuart… - Human …, 2017 - Wiley Online Library
De novo mutations are a frequent cause of disorders related to brain development. We
report the results from the screening of two patients diagnosed with intellectual disability (ID) …

The spatiotemporal construction of the axon initial segment via KIF3/KAP3/TRIM46 transport under MARK2 signaling

S Ichinose, T Ogawa, X Jiang, N Hirokawa - Cell Reports, 2019 - cell.com
The axon initial segment (AIS) is a compartment that serves as a molecular barrier to
achieve axon-dendrite differentiation. Distribution of specific proteins during early neuronal …

Diversity and structural‐functional insights of alpha‐solenoid proteins

PN Arrías, Z Osmanli, E Peralta, PM Chinestrad… - Protein …, 2024 - Wiley Online Library
Alpha‐solenoids are a significant and diverse subset of structured tandem repeat proteins
(STRPs) that are important in various domains of life. This review examines their structural …

Structural insights into ankyrin repeat-containing proteins and their influence in ubiquitylation

EI Kane, DE Spratt - International journal of molecular sciences, 2021 - mdpi.com
Ankyrin repeat (AR) domains are considered the most abundant repeat motif found in
eukaryotic proteins. AR domains are predominantly known to mediate specific protein …

Improved methods for fluorescence microscopy detection of macromolecules at the axon initial segment

MA Alshammari, TK Alshammari… - Frontiers in cellular …, 2016 - frontiersin.org
The axonal initial segment (AIS) is the subcellular compartment required for initiation of the
action potential in neurons. Scaffolding and regulatory proteins at the AIS cluster with ion …

[HTML][HTML] CK2 activity is required for the interaction of FGF14 with voltage-gated sodium channels and neuronal excitability

WCJ Hsu, F Scala, MN Nenov, NC Wildburger… - The FASEB …, 2016 - ncbi.nlm.nih.gov
Recent data shows that fibroblast growth factor 14 (FGF14) binds to and controls the function
of the voltage-gated sodium (Nav) channel with phenotypic outcomes on neuronal …

Genetic Variation in Pan Species Is Shaped by Demographic History and Harbors Lineage-Specific Functions

S Han, AM Andrés, T Marques-Bonet… - Genome biology and …, 2019 - academic.oup.com
Chimpanzees (Pan troglodytes) and bonobos (Pan paniscus) are the closest living relatives
of humans, but the two species show distinct behavioral and physiological differences …