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MAD2L1BP gene

Known as: MAD2L1BP, MAD2L1 binding protein, KIAA0110 
National Institutes of Health

Papers overview

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2014
2014
Predicting Mitochondrial tRNA Modification
M itochondria are integral to proper cell function, and mutations in its small genome (mtDNA) are associated with many diseases… 
2014
2014
The spectrum of axonopathies
Hereditary spastic paraplegias (HSP) are characterized by the presence of lower extremity spasticity and weakness. They are… 
2012
2012
A novel p.Glu175X premature stop mutation in the C‐terminal end of HSP27 is a cause of CMT2
Mutations in the gene HSPB1, encoding the small heat shock protein 27 (HSP27), are a cause of distal hereditary motor neuropathy… 
2012
2012
Depletion of p 31 comet promotes sensitivity to antimitotic drugs
Antimitotic spindle poisons are among the most important chemotherapeutic agents available. However, precocious mitotic exit by… 
2009
2009
The role of MAD2L1BP in the silencing of the spindle-assembly checkpoint and the DNA damage checkpoint
  • K. On
  • 2009
  • Corpus ID: 90911956
2009
2009
Novel GDAP1 Mutation in a Turkish Family with CMT2K (CMT2K with Novel GDAP1 Mutation)
Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause Charcot–Marie–Tooth type 2 (CMT2), a… 
2009
2009
[Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease].
OBJECTIVE To analyze MFN2 gene mutation in Chinese patients Charcot-Marie-Tooth disease (CMT) and to establish a quick and… 
2008
2008
Hereditary motor neuropathy and heat shock proteins
In this issue of Neurology ®, Houlden et al.1 report four new autosomal dominant mutations and the first autosomal recessive… 
2000
2000
Macro‐EMG and muscle biopsy of paretic foot dorsiflexors in Charcot–Marie–Tooth disease
Twelve patients with Charcot–Marie–Tooth disease type 1 (CMT1) and 11 with type 2 (CMT2), with a clinically similar range of… 
1999
1999
Analysis of sensory function in Charcot‐Marie‐Tooth disease
Ten patients each with Charcot‐Marie‐Tooth disease type 1 (CMT1), demyelinating form, and CMT2, axonal form, were subjected to… 
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