|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.
|
21389246 |
2011 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects.
|
21088113 |
2011 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
|
15580564 |
2005 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
|
15580564 |
2005 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of novel mutations in the SMN Tudor domain in type I SMA patients.
|
15249625 |
2004 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.
|
14715275 |
2004 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
|
10732817 |
1997 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
|
10732817 |
1997 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?
|
9147655 |
1997 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification and characterization of a spinal muscular atrophy-determining gene.
|
7813012 |
1995 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Identification and characterization of a spinal muscular atrophy-determining gene.
|
7813012 |
1995 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Spinal Muscular Atrophy
|
|
0.040 |
GeneticVariation
|
BEFREE |
Expressing hSMN deleted for exon 7 (Delta7) or for exons 6 and 7 (Delta6/7), or with the SMA point mutant Y272C, resulted in loss of survival function.
|
12374765 |
2002 |
|
Spinal Muscular Atrophy
|
|
0.040 |
GeneticVariation
|
BEFREE |
SMN mutants (SMNDelta7 and SMN-Y272C) found in patients with SMA not only lack antiapoptotic activity but also are potently proapoptotic, causing increased neuronal apoptosis and animal mortality.
|
11078511 |
2000 |
|
Spinal Muscular Atrophy
|
|
0.040 |
GeneticVariation
|
BEFREE |
SMN(Y272C), which carries a missense mutation and was found in an SMA patient who exceptionally retained SMN on one allele, exerts no synergism with Bcl-2.
|
9389483 |
1997 |
|
Spinal Muscular Atrophy
|
|
0.040 |
GeneticVariation
|
BEFREE |
Using single strand conformation analysis, we identified two missense mutations (P245L and Y272C) in exon 6 of the SMN(T) gene of two SMA patients shown to have a single copy of SMN(T) exon 7.
|
10732817 |
1997 |
|
Neurodegenerative Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
Taken together, deletions or mutations of the C terminus of SMN that result from proteolysis, splicing (SMNDelta7), or germ-line mutations (e.g., Y272C), produce a proapoptotic form of SMN that may contribute to neuronal death in SMA and perhaps other neurodegenerative disorders.
|
11078511 |
2000 |