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PLEKHG4 gene

Known as: DKFZP434I216, pleckstrin homology and RhoGEF domain containing G4, puratrophin-1 
 
National Institutes of Health

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Broader (1)

Genes

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Plekhg4 Is a Novel Dbl Family Guanine Nucleotide Exchange Factor Protein for Rho Family GTPases*
Background: Plekhg4 is putative guanine nucleotide exchange factor associated with autosomal dominant spinocerebellar ataxia… Expand
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2011
2011
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
Dominant optic atrophy (DOA) is genetically heterogeneous and pathogenic mutations have been identified in the OPA1 and OPA3… Expand
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2010
2010
Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan
Spinocerebellar ataxia type 31 (SCA31) is a recently defined subtype of autosomal dominant cerebellar ataxia (ADCA) characterized… Expand
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2010
2010
DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2
DFNB89 is a novel autosomal recessive nonsyndromic hearing impairment (ARNSHI) locus that was mapped to 16q21-q23.2. Linkage to… Expand
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2008
2008
Lack of variation of ATTCT pentanucleotide repeats at ATXN10 gene between clinically diagnosed ataxia patients and normal individuals originated from Chinese Han
. 2006).An epidemiological study found that SCA10 sub-type, first reported in individuals of Mexican ances-try with ataxia, was… Expand
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2008
2008
Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic
JO N 2 77 1 C-to-T change resulted in reduced expression level of the gene. The puratrophin-1 protein was also shown to be… Expand
2007
2007
Development and function of spinal locomotor circuits in zebrafish
s / Neuroscience Research 58S (2007) S1–S244 S17 S2A-J5 A new autosomal dominant cerebellar ataxia linked to chromosome 16q22.1… Expand
2007
2007
A new autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 (16q-ADCA)
  • H. Mizusawa
  • Neuroscience Research
  • 2007
    • Corpus ID: 53184564
s / Neuroscience Research 58S (2007) S1–S244 S17 S2A-J5 A new autosomal dominant cerebellar ataxia linked to chromosome 16q22.1… Expand
2006
2006
Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population
AbstractAutosomal dominant cerebellar ataxia (ADCA) is a genetically heterogeneous group of neurodegenerative disorders with… Expand
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Highly Cited
2005
Highly Cited
2005
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin…
Autosomal dominant cerebellar ataxia (ADCA) is a group of heterogeneous neurodegenerative disorders. By positional cloning, we… Expand
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