(Q64124426)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29861105%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

title

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy (English)

1 reference

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29 March 2020

0 references

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intellectual disability

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profound intellectual disability

inferred from title

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1 reference

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disability affecting intellectual abilities

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inferred from title

author

Xilma R Ortiz-Gonzalez

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29861105%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Patrick M Gaffney

10

1 reference

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29 March 2020

11

Klaas J Wierenga

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29861105%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

author name string

Chih-Chuan Wang

1

1 reference

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29 March 2020

Sabrina W Yum

3

1 reference

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29 March 2020

Sara M Gill

4

1 reference

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29 March 2020

Amy White

5

1 reference

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29 March 2020

Erin Kelter

6

1 reference

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29 March 2020

Laurie H Seaver

7

1 reference

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29 March 2020

Sansan Lee

8

1 reference

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29 March 2020

Graham Wiley

9

1 reference

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29 March 2020

Matthew N Rasband

12

1 reference

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29 March 2020

language of work or name

English

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publication date

31 May 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29861105%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

29 March 2020

published in

1 reference

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29 March 2020

volume

102

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29 March 2020

issue

6

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29 March 2020

page(s)

1158-1168

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29861105%20AND%20SRC:MED&resulttype=core&format=json

Properties of human red cell spectrin heterodimer (side-to-side) assembly and identification of an essential nucleation site

29 March 2020

cites work

1 reference

12 December 2020

betaIV spectrin, a new spectrin localized at axon initial segments and nodes of ranvier in the central and peripheral nervous system

1 reference

12 December 2020

Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues

1 reference

12 December 2020

Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice

1 reference

12 December 2020

[Beta]IV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of Ranvier

1 reference

12 December 2020

KCNQ2 is a nodal K+ channel.

1 reference

12 December 2020

BetaIV spectrins are essential for membrane stability and the molecular organization of nodes of Ranvier

1 reference

12 December 2020

BetaIVSigma1 spectrin stabilizes the nodes of Ranvier and axon initial segments

1 reference

12 December 2020

Spectrin mutations cause spinocerebellar ataxia type 5.

1 reference

12 December 2020

A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon

1 reference

12 December 2020

Spectrins and ankyrinB constitute a specialized paranodal cytoskeleton

1 reference

12 December 2020

The molecular basis of hereditary red cell membrane disorders

1 reference

12 December 2020

Pleckstrin homology (PH) domains and phosphoinositides

1 reference

12 December 2020

betaIV spectrin is recruited to axon initial segments and nodes of Ranvier by ankyrinG.

1 reference

12 December 2020

Neurofascin assembles a specialized extracellular matrix at the axon initial segment

1 reference

12 December 2020

AnkyrinG is required for maintenance of the axon initial segment and neuronal polarity.

1 reference

12 December 2020

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

1 reference

12 December 2020

The C-terminal domain of ßIV-spectrin is crucial for KCNQ2 aggregation and excitability at nodes of Ranvier.

1 reference

12 December 2020

Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation

1 reference

12 December 2020

Actin, spectrin, and associated proteins form a periodic cytoskeletal structure in axons

1 reference

12 December 2020

E-cadherin polarity is determined by a multifunction motif mediating lateral membrane retention through ankyrin-G and apical-lateral transcytosis through clathrin

1 reference

12 December 2020

Three mechanisms assemble central nervous system nodes of Ranvier

1 reference

12 December 2020

Kv7.2 regulates the function of peripheral sensory neurons

1 reference

12 December 2020

An RNA-sequencing transcriptome and splicing database of glia, neurons, and vascular cells of the cerebral cortex.

1 reference

12 December 2020

A hierarchy of ankyrin-spectrin complexes clusters sodium channels at nodes of Ranvier

1 reference

12 December 2020

Structural basis of diverse membrane target recognitions by ankyrins

1 reference

12 December 2020

SPTAN1 encephalopathy: distinct phenotypes and genotypes

1 reference

12 December 2020

Nanoscale Architecture of the Axon Initial Segment Reveals an Organized and Robust Scaffold.

1 reference

12 December 2020

Dynein Regulator NDEL1 Controls Polarized Cargo Transport at the Axon Initial Segment

1 reference

12 December 2020

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

12 December 2020

Ultrastructural anatomy of nodes of Ranvier in the peripheral nervous system as revealed by STED microscopy

1 reference

12 December 2020

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

1 reference

12 December 2020

10.1016/J.AJHG.2018.04.012

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29861105%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29861105%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

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