All Outputs (4)

An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs. (2020)
Journal Article
Holt, I., Fuller, H. R., Schindler, R. F., Shirran, S. L., Brand, T., & Morris, G. E. (2020). An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs. https://doi.org/10.1186/s12860-020-00329-3

BACKGROUND: Popeye domain-containing proteins 1 and 2 (POPDC1 and POPDC2) are transmembrane proteins involved in cyclic AMP-mediated signalling processes and are required for normal cardiac pacemaking and conduction. In order to identify novel protei... Read More about An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs..

Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy (2020)
Journal Article
Storey, E., Holt, I., Morris, G., & Fuller, H. (2020). Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy. Neuromuscular Disorders, 443-456. https://doi.org/10.1016/j.nmd.2020.04.002

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder characterised by the early development of muscle contractures, progressive muscle weakness, and heart abnormalities. The latter may result in serious complications, or in severe case... Read More about Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy.

Quantitative proteomic profiling of the rat substantia nigra places glial fibrillary acidic protein at the hub of proteins dysregulated during aging: Implications for idiopathic Parkinson’s disease (2020)
Journal Article
Gómez-Gálvez, Y., Fuller, H., Synowsky, S., Shirran, L., & Gates, M. (2020). Quantitative proteomic profiling of the rat substantia nigra places glial fibrillary acidic protein at the hub of proteins dysregulated during aging: Implications for idiopathic Parkinson’s disease. Journal of Neuroscience Research, 1417-1432. https://doi.org/10.1002/jnr.24622

There is a strong correlation between aging and onset of idiopathic Parkinson’s disease, but little is known about whether cellular changes occur during normal aging that may explain this association. Here, proteomic and bioinformatic analysis was co... Read More about Quantitative proteomic profiling of the rat substantia nigra places glial fibrillary acidic protein at the hub of proteins dysregulated during aging: Implications for idiopathic Parkinson’s disease.

Molecular crosstalk between non-SMN-related and SMN-related spinal muscular atrophy (2020)
Journal Article
Šoltić, D., & Fuller, H. (2020). Molecular crosstalk between non-SMN-related and SMN-related spinal muscular atrophy

Most cases of spinal muscular atrophy are caused by functional loss of the survival of motor neuron 1 (SMN1) gene, while less than 5% of cases are attributed to genes other than SMN. Mutations in LMNA, the lamin A/C encoding gene, cause an adult form... Read More about Molecular crosstalk between non-SMN-related and SMN-related spinal muscular atrophy.