A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance (Q28509505)

24 January 2017

title

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance (English)

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Distal hereditary motor neuropathies

24 January 2017

main subject

spinal muscular atrophy

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1 reference

GOA release 2020-03-11

muscular atrophy

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based on heuristic

inferred from title

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21

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Stephan Züchner

10

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Andrew Singleton

18

object named as

Andrew B. Singleton

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24 January 2017

16

Mary M. Reilly

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24 January 2017

8

Robert H. Baloh

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24 January 2017

5

Dena Hernandez

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14

David R. Cornblath

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24 January 2017

Charlotte J. Sumner

1

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24 January 2017

Constantin d'Ydewalle

2

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24 January 2017

Joe Wooley

3

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24 January 2017

Katherine A. Fawcett

4

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24 January 2017

Alice R. Gardiner

6

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24 January 2017

Bernadett Kalmar

7

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24 January 2017

Michael Gonzalez

9

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24 January 2017

Horia C. Stanescu

11

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24 January 2017

Robert Kleta

12

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24 January 2017

Ami Mankodi

13

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24 January 2017

Kevin B. Boylan

15

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24 January 2017

Linda Greensmith

17

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24 January 2017

Matthew B. Harms

19

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24 January 2017

Alexander M. Rossor

20

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24 January 2017

language of work or name

English

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publication date

7 November 2013

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American Journal of Human Genetics

24 January 2017

published in

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24 January 2017

volume

93

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24 January 2017

issue

5

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24 January 2017

page(s)

976–983

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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

24 January 2017

cites work

1 reference

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Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

19 March 2017

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A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

19 March 2017

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Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease

19 March 2017

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Control of cell growth by the SCF and APC/C ubiquitin ligases

19 March 2017

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Transcription factor KLF7 is important for neuronal morphogenesis in selected regions of the nervous system

19 March 2017

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19 March 2017

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Identification of MoKA, a novel F-box protein that modulates Krüppel-like transcription factor 7 activity

19 March 2017

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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

19 March 2017

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Developmental expression of mouse Krüppel-like transcription factor KLF7 suggests a potential role in neurogenesis

19 March 2017

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Factors regulating the transcriptional elongation activity of RNA polymerase II

19 March 2017

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A complex of Cdc4p, Skp1p, and Cdc53p/cullin catalyzes ubiquitination of the phosphorylated CDK inhibitor Sic1p

19 March 2017

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F-box proteins are receptors that recruit phosphorylated substrates to the SCF ubiquitin-ligase complex

19 March 2017

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Krüppel-like Factor 7 engineered for transcriptional activation promotes axon regeneration in the adult corticospinal tract

19 March 2017

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A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation

29 September 2017

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Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias

29 September 2017

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29 September 2017

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Multiple transcription factor families regulate axon growth and regeneration

29 September 2017

1 reference

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The genetics of spinal muscular atrophies

29 September 2017

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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

29 September 2017

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KLF family members regulate intrinsic axon regeneration ability.

29 September 2017

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Transcriptional mechanisms controlling motor neuron diversity and connectivity

29 September 2017

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Gene expression analysis of zebrafish retinal ganglion cells during optic nerve regeneration identifies KLF6a and KLF7a as important regulators of axon regeneration

29 September 2017

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Neural recognition molecules of the immunoglobulin superfamily: signaling transducers of axon guidance and neuronal migration

29 September 2017

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Identification of genes regulated by transcription factor KLF7 in differentiating olfactory sensory neurons

29 September 2017

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Multiple pathways regulate intracellular shuttling of MoKA, a co-activator of transcription factor KLF7

29 September 2017

1 reference

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The zinc finger transcription factor Klf7 is required for TrkA gene expression and development of nociceptive sensory neurons

29 September 2017

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Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

29 September 2017

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Ca2+, CREB and krüppel: a novel KLF7-binding element conserved in mouse and human TRKB promoters is required for CREB-dependent transcription

29 September 2017

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Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

2 June 2018

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Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

27 November 2018

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Adeno-associated virus-mediated L1 expression promotes functional recovery after spinal cord injury.

27 November 2018

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Autosomal dominant distal spinal muscular atrophy in four generations

27 November 2018

1 reference

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L1-mediated axon outgrowth occurs via a homophilic binding mechanism

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/24207122

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.10.006

1 reference

1 reference

1 reference

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