Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy

Journal of Human Genetics

Volumn 59, Issue 1, 2014, Pages 24-27

  Yanyan, Cao ^a   Yujin, Qu ^a   Jinli, Bai ^a   Yuwei, Jin ^a   Hong, Wang ^a   Fang, Song ^a  

^a CAPITAL INSTITUTE OF PEDIATRICS   (China)

Author keywords

Plastin 3; SMN1; spinal muscular atrophy

Indexed keywords

GENOMIC DNA; PLASTIN 3 PROTEIN; PROTEIN; RNA; SURVIVAL MOTOR NEURON PROTEIN 2; UNCLASSIFIED DRUG;

AGE DISTRIBUTION; ARTICLE; CHILD; CHILDHOOD DISEASE; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE SEVERITY; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEX DIFFERENCE; SPINAL MUSCULAR ATROPHY;

AGE FACTORS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; GENE DOSAGE; GENE EXPRESSION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE GLYCOPROTEINS; MICROFILAMENT PROTEINS; MUSCULAR ATROPHY, SPINAL; SEVERITY OF ILLNESS INDEX; SEX FACTORS; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 84893301832     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.111     Document Type: Article

References (9)

1. Aĺas, L., Bernal, S., Fuentes-Prior, P., Barceló, M. J., Also, E., Mart́nez-Hernández, R. et al. Mutation update of spinal muscular atrophy in Spain: Molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum. Genet. 125, 29-39 (2009).
2. Prior, T. W., Swoboda, K. J., Scott, H. D. & Hejmanowski, A. Q. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am. J. Med. Genet. A. 130, 307-310 (2004).
3. Prior, T. W., Krainer, A. R., Hua, Y., Swoboda, K. J., Snyder, P. C., Bridgeman, S. J. et al. A positive modifier of spinal muscular atrophy in the SMN2 gene. Am. J. Hum. Genet. 85, 408-413 (2009).
4. Oprea, G. E., Krober, S., McWhorter, M. L., Rossoll, W., Mu ller, S., Krawczak, M. et al. Plastin is a protective modifier of autosomal recessive spinal muscular atrophy. Science 320, 524-527 (2008).
5. Stratigopoulos, G., Lanzano, P., Deng, L., Guo, J., Kaufmann, P., Darras, B. et al. Association of plastin expression with disease severity in spinal muscular atrophy only in postpubertal females. Arch. Neurol. 67, 1252-1256 (2010).
6. Hao le, T., Wolman, M., Granato, M. & Beattie, C. E. Survival motor neuron affects plastin protein levels leading to motor defects. J. Neurosci. 32, 5074-5084 (2012).
7. Ackermann, B., Krober, S., Torres-Benito, L., Borgmann, A., Peters, M., Hosseini Barkooie, S. M. et al. Plastin ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality. Hum. Mol. Genet. 22, 1328-1347 (2013).
8. Ahmad, S., Wang, Y., Shaik, G. M., Burghes, A. H. & Gangwani, L. The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy. Hum. Mol. Genet. 21, 2745-2758 (2012).
9. Hauke, J., Riessland, M., Lunke, S., Eyupoglu, I. Y., Blumcke, I., El-Osta, A. et al. Survival motor neuron gene silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum. Mol. Genet. 18, 304-317 (2009).