Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. (Q41930221)

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17 March 2020

title

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function (English)

1 reference

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disability affecting intellectual abilities

17 March 2020

main subject

disability

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intellectual disability

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based on heuristic

inferred from title

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10

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17 March 2020

Stefan Haas

5

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17 March 2020

Lisenka Vissers

8

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17 March 2020

Hans van Bokhoven

9

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17 March 2020

Nael Nadif Kasri

11

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17 March 2020

4

Arjan P M de Brouwer

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17 March 2020

12

Tjitske Kleefstra

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17 March 2020

Marjolein H Willemsen

1

object named as

Marjolein H Willemsen

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Willemijn M Wissink-Lindhout

17 March 2020

3

object named as

Willemijn M Wissink-Lindhout

1 reference

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17 March 2020

author name string

Wei Ba

2

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17 March 2020

Melanie Bienek

6

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17 March 2020

Hao Hu

7

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17 March 2020

language of work or name

English

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publication date

8 May 2014

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Journal of Medical Genetics

17 March 2020

published in

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17 March 2020

volume

51

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17 March 2020

page(s)

487-494

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17 March 2020

issue

7

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All kinesin superfamily protein, KIF, genes in mouse and human

17 March 2020

cites work

1 reference

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Defect in synaptic vesicle precursor transport and neuronal cell death in KIF1A motor protein-deficient mice.

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Situs inversus and embryonic ciliary morphogenesis defects in mouse mutants lacking the KIF3A subunit of kinesin-II

21 January 2018

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Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

21 January 2018

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KIF4 motor regulates activity-dependent neuronal survival by suppressing PARP-1 enzymatic activity.

21 January 2018

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Targeted disruption of mouse conventional kinesin heavy chain, kif5B, results in abnormal perinuclear clustering of mitochondria

21 January 2018

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Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

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Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A.

21 January 2018

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Overexpression of motor protein KIF17 enhances spatial and working memory in transgenic mice

21 January 2018

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Molecular motor KIF5A is essential for GABA(A) receptor transport, and KIF5A deletion causes epilepsy.

21 January 2018

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Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

21 January 2018

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Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

21 January 2018

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Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

21 January 2018

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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

21 January 2018

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A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

21 January 2018

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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

21 January 2018

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Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

21 January 2018

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

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Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy

21 January 2018

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Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

21 January 2018

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Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

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Rapid synthesis of the X-linked mental retardation protein OPHN1 mediates mGluR-dependent LTD through interaction with the endocytic machinery.

21 January 2018

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21 January 2018

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21 January 2018

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Emerging major synaptic signaling pathways involved in intellectual disability

21 January 2018

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Disrupted GABAAR trafficking and synaptic inhibition in a mouse model of Huntington's disease

21 January 2018

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21 January 2018

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21 January 2018

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