Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development (scientific article (publication date: 2012))

Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.

Q33801655

Close interrelation of motor development and cognitive development and of the cerebellum and prefrontal cortex.

Q33932498

Hereditary spherocytosis

Q34014255

Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.

Q34083706

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

Q34116923

Spectrin mutations cause spinocerebellar ataxia type 5.

Q34486967

Cell organization, growth, and neural and cardiac development require αII-spectrin

Q35630638

Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.

Q35639571

β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis

Q36031082

mGluR5 regulates glutamate-dependent development of the mouse somatosensory cortex

Q37352265

The spectrin-ankyrin-4.1-adducin membrane skeleton: adapting eukaryotic cells to the demands of animal life

Q37776425

Brain spectrin: of mice and men.

Q40530033

Molecular epitopes of the ankyrin-spectrin interaction.

Q41162064

Distinct contributions of the hippocampus and medial prefrontal cortex to the "what-where-when" components of episodic-like memory in mice

Q41431979

Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis

Q41807590

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

Q42416347

When is the hippocampus involved in recognition memory?

Q48122500

Recognition memory for objects, place, and temporal order: a disconnection analysis of the role of the medial prefrontal cortex and perirhinal cortex.

Q48241666

Sca5 or lincoln ataxia?

Q48462911

Abraham lincoln may have had sca type 5.

Q48462921

Should spinocerebellar ataxia type 5 be called Lincoln ataxia?

Q48828197

P275

Creative Commons Attribution 4.0 International

copyrighted

issue

language of work or name

English

Q1860

P304

page(s)

e1003074

P577

publication date

2012-01-01

P1433

published in

PLOS Genetics

Q1893441

P1476

title

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development

P478

volume

Reverse relations

cites work (P2860)

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