| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jung-Won Shin, Keun-Hwa Jung, Soon-Tae Lee, Jangsup Moon, Moon-Woo Seong, Sung Sup Park, Sang Kun Lee, Kon Ch. Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia. Autonomic neuroscience : basic & clinical. vol 185. 2015-06-05. PMID:24969372. |
novel mutation in the atl1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia. |
2015-06-05 |
2023-08-13 |
Not clear |
| Jung-Won Shin, Keun-Hwa Jung, Soon-Tae Lee, Jangsup Moon, Moon-Woo Seong, Sung Sup Park, Sang Kun Lee, Kon Ch. Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia. Autonomic neuroscience : basic & clinical. vol 185. 2015-06-05. PMID:24969372. |
spg3a, which is the second most common type of autosomal dominant hereditary spastic paraplegia (hsp), is caused by mutations in the atlastin gtpase 1 gene, atl1. |
2015-06-05 |
2023-08-13 |
Not clear |
| Ying Gao, Tian Jiang, Chunsheng Qu, Huaping Tao, Huateng Cao, Yuee Zhao, Yun Wang, Jia Qu, Jie-Guang Che. Atlastin-1 regulates dendritic morphogenesis in mouse cerebral cortex. Neuroscience research. vol 77. issue 3. 2014-07-29. PMID:23999326. |
these results indicate that atl1 regulates dendritic morphogenesis, which may provide new insights into the neuropathogenic mechanism of hereditary spastic paraplegia spg3a. |
2014-07-29 |
2023-08-12 |
mouse |
| Tae-Hyoung Kim, Jae-Hyeok Lee, Young-Eun Park, Jin-Hong Shin, Tai-Seung Nam, Hyang-Sook Kim, Ho-Jung Jang, Artem Semenov, Sang Jin Kim, Dae-Seong Ki. Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia. Journal of clinical neurology (Seoul, Korea). vol 10. issue 3. 2014-07-21. PMID:25045380. |
mutation analysis of spast, atl1, and reep1 in korean patients with hereditary spastic paraplegia. |
2014-07-21 |
2023-08-13 |
Not clear |
| Uwe Kornak, Inès Mademan, Marte Schinke, Martin Voigt, Peter Krawitz, Jochen Hecht, Florian Barvencik, Thorsten Schinke, Sebastian Gießelmann, F Timo Beil, Adolf Pou-Serradell, Juan J Vílchez, Christian Beetz, Tine Deconinck, Vincent Timmerman, Christoph Kaether, Peter De Jonghe, Christian A Hübner, Andreas Gal, Michael Amling, Stefan Mundlos, Jonathan Baets, Ingo Kurt. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain : a journal of neurology. vol 137. issue Pt 3. 2014-05-26. PMID:24459106. |
atl3 is a paralogue of atl1, a membrane curvature-generating molecule that is involved in spastic paraplegia and hereditary sensory neuropathy. |
2014-05-26 |
2023-08-12 |
Not clear |
| Rita-Eva Varga, Rebecca Schüle, Hicham Fadel, Irene Valenzuela, Fiorella Speziani, Michael Gonzalez, Galina Rudenskaia, Gudrun Nürnberg, Holger Thiele, Janine Altmüller, Victoria Alvarez, Josep Gamez, James Y Garbern, Peter Nürnberg, Stephan Zuchner, Christian Beet. Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. Human mutation. vol 34. issue 6. 2013-12-30. PMID:23483706. |
do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in atl1 blurs autosomal dominant inheritance of spastic paraplegia. |
2013-12-30 |
2023-08-12 |
Not clear |
| Xin Bian, Robin W Klemm, Tina Y Liu, Miao Zhang, Sha Sun, Xuewu Sui, Xinqi Liu, Tom A Rapoport, Junjie H. Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes. Proceedings of the National Academy of Sciences of the United States of America. vol 108. issue 10. 2011-05-26. PMID:21368113. |
finally, our results show that mutations in atl1 causing hereditary spastic paraplegia compromise homotypic er fusion. |
2011-05-26 |
2023-08-12 |
human |
| Christian Guelly, Peng-Peng Zhu, Lea Leonardis, Lea Papić, Janez Zidar, Maria Schabhüttl, Heimo Strohmaier, Joachim Weis, Tim M Strom, Jonathan Baets, Jan Willems, Peter De Jonghe, Mary M Reilly, Eleonore Fröhlich, Martina Hatz, Slave Trajanoski, Thomas R Pieber, Andreas R Janecke, Craig Blackstone, Michaela Auer-Grumbac. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. American journal of human genetics. vol 88. issue 1. 2011-02-03. PMID:21194679. |
we detected a missense mutation (c.1065c>a, p.asn355lys) in atlastin-1 (atl1), a gene that is known to be mutated in early-onset hereditary spastic paraplegia spg3a and that encodes the large dynamin-related gtpase atlastin-1. |
2011-02-03 |
2023-08-12 |
Not clear |
| Victoria Alvarez, Elena Sánchez-Ferrero, Christian Beetz, Marta Díaz, Belén Alonso, Ana I Corao, Josep Gámez, Jesús Esteban, Juan F Gonzalo, Samuel I Pascual-Pascual, Adolfo López de Munain, Germán Moris, Renne Ribacoba, Celedonio Márquez, Jordi Rosell, Rosario Marín, Maria J García-Barcina, Emilia Del Castillo, Carmen Benito, Eliecer Cot. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. BMC neurology. vol 10. 2011-01-06. PMID:20932283. |
mutational spectrum of the spg4 (spast) and spg3a (atl1) genes in spanish patients with hereditary spastic paraplegia. |
2011-01-06 |
2023-08-12 |
Not clear |