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MAD2L1BP gene

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2 (CMT2) is a clinically and genetically heterogeneous inherited neuropathy. Although new… 
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… 
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… 
Review
1999
Review
1999
Charcot-Marie-Tooth disease type 2.
No unique genes have yet been found for CMT2, but both Cx32 and P0 appear to contribute to the phenotype. Not surprisingly, CMT2… 
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