| Title |
Alternative Splicing of Spg7, a Gene Involved in Hereditary Spastic Paraplegia, Encodes a Variant of Paraplegin Targeted to the Endoplasmic Reticulum
|
|---|---|
| Published in |
PLOS ONE, May 2012
|
| DOI | 10.1371/journal.pone.0036337 |
| Pubmed ID | |
| Authors |
Giuseppe Mancuso, Esther Barth, Pietro Crivello, Elena I. Rugarli |
| Abstract |
Hereditary spastic paraplegia defines a group of genetically heterogeneous diseases characterized by weakness and spasticity of the lower limbs owing to retrograde degeneration of corticospinal axons. One autosomal recessive form of the disease is caused by mutation in the SPG7 gene. Paraplegin, the product of SPG7, is a component of the m-AAA protease, a high molecular weight complex that resides in the mitochondrial inner membrane, and performs crucial quality control and biogenesis functions in mitochondria. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Egypt | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Practitioners (doctors, other healthcare professionals) | 1 | 50% |
| Members of the public | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 53 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 2% |
| Unknown | 52 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 17 | 32% |
| Researcher | 11 | 21% |
| Student > Master | 6 | 11% |
| Student > Bachelor | 5 | 9% |
| Professor > Associate Professor | 3 | 6% |
| Other | 6 | 11% |
| Unknown | 5 | 9% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 17 | 32% |
| Biochemistry, Genetics and Molecular Biology | 13 | 25% |
| Medicine and Dentistry | 9 | 17% |
| Neuroscience | 5 | 9% |
| Chemistry | 2 | 4% |
| Other | 1 | 2% |
| Unknown | 6 | 11% |