All Relations between Paraplegia and atl1

Publication Sentence Publish Date Extraction Date Species
Eliska Zlamalova, Catherine Rodger, Francesca Greco, Samuel R Cheers, Julia Kleniuk, Aishwarya G Nadadhur, Zuzana Kadlecova, Evan Rei. Atlastin-1 regulates endosomal tubulation and lysosomal proteolysis in human cortical neurons. Neurobiology of disease. 2024-06-08. PMID:38851544. mutation of the atl1 gene is one of the most common causes of hereditary spastic paraplegia (hsp), a group of genetic neurodegenerative conditions characterised by distal axonal degeneration of the corticospinal tract axons. 2024-06-08 2024-06-11 human
Sihem Darouich, Samia Darouic. A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance. American journal of medical genetics. Part A. 2023-11-06. PMID:37927245. a novel homozygous variant in atl1 associated with early onset spastic paraplegia 3a: further evidence for autosomal recessive inheritance. 2023-11-06 2023-11-08 Not clear
Sihem Darouich, Samia Darouic. A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance. American journal of medical genetics. Part A. 2023-11-06. PMID:37927245. spastic paraplegia 3a (spg3a) has long been considered as an autosomal dominant disorder till the report in 2014 and 2016 of two consanguineous arabic families, showing that atl1 mutations may cause autosomal recessive paraplegia. 2023-11-06 2023-11-08 Not clear
Julian E Alecu, Afshin Saffari, Catherine Jordan, Siddharth Srivastava, Craig Blackstone, Darius Ebrahimi-Fakhar. De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations. Human molecular genetics. 2022-08-04. PMID:35925862. pathogenic variants in atl1 are a known cause of autosomal-dominantly inherited hereditary spastic paraplegia (hsp-atl1, spg3a) with a predominantly 'pure' hsp phenotype. 2022-08-04 2023-08-14 Not clear
Armand Hocquel, Jean-Marie Ravel, Laetitia Lambert, Céline Bonnet, Guillaume Banneau, Bophara Kol, Laurène Tissier, Lucie Hopes, Mylène Meyer, Céline Dillier, Maud Michaud, Arnaud Lardin, Anne-Laure Kaminsky, Emmanuelle Schmitt, Liang Liao, François Zhu, Bronner Myriam, Carine Bossenmeyer-Pourié, Antoine Verger, Mathilde Renau. Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain Neurogenetics. 2022-07-05. PMID:35788923. reduced penetrance of an eastern french mutation in atl1 autosomal-dominant inheritance (spg3a): extended phenotypic spectrum coupled with brain atl1-related spastic paraplegia spg3a is a pure form of hereditary spastic paraplegia. 2022-07-05 2023-08-14 Not clear
V A Kadnikova, G E Rudenskaya, A A Stepanova, I G Sermyagina, O P Ryzhkov. Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia. Scientific reports. vol 9. issue 1. 2020-11-02. PMID:31594988. mutational spectrum of spast (spg4) and atl1 (spg3a) genes in russian patients with hereditary spastic paraplegia. 2020-11-02 2023-08-13 Not clear
Liling Niu, Tianji Ma, Feng Yang, Bing Yan, Xiao Tang, Haidi Yin, Qian Wu, Yan Huang, Zhong-Ping Yao, Jifeng Wang, Yusong Guo, Junjie H. Atlastin-mediated membrane tethering is critical for cargo mobility and exit from the endoplasmic reticulum. Proceedings of the National Academy of Sciences of the United States of America. vol 116. issue 28. 2020-03-30. PMID:31239341. deletion of atl results in long unbranched er tubules in cells, and mutation of human atl1 is linked to hereditary spastic paraplegia. 2020-03-30 2023-08-13 human
Laura Behrendt, Ingo Kurth, Christoph Kaethe. A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways. Cellular and molecular life sciences : CMLS. vol 76. issue 7. 2019-03-29. PMID:30666337. mutations in atl1 and atl3 cause spastic paraplegia and hereditary sensory neuropathy. 2019-03-29 2023-08-13 Not clear
Anna Uhrová Mészárosová, Dagmar Grečmalová, Michaela Brázdilová, Nina Dvořáčková, Zdeněk Kalina, Marie Čermáková, Dagmar Vávrová, Irena Smetanová, David Staněk, Pavel Seema. Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients. Annals of human genetics. vol 81. issue 6. 2018-05-03. PMID:28736820. variants in the atl1 gene have been repeatedly described as the second most frequent cause of hereditary spastic paraplegia (hsp), a motor neuron disease manifested by progressive lower limb spasticity and weakness. 2018-05-03 2023-08-13 Not clear
Anna Uhrová Mészárosová, Dagmar Grečmalová, Michaela Brázdilová, Nina Dvořáčková, Zdeněk Kalina, Marie Čermáková, Dagmar Vávrová, Irena Smetanová, David Staněk, Pavel Seema. Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients. Annals of human genetics. vol 81. issue 6. 2018-05-03. PMID:28736820. disease-causing variants in the atl1 gene are a rare cause of hereditary spastic paraplegia among czech patients. 2018-05-03 2023-08-13 Not clear
Guohua Zhao, Peng-Peng Zhu, Benoît Renvoisé, Lymarie Maldonado-Báez, Seong Hee Park, Craig Blackston. Mammalian knock out cells reveal prominent roles for atlastin GTPases in ER network morphology. Experimental cell research. vol 349. issue 1. 2017-05-15. PMID:27669642. humans have three atlastins (atl1, atl2, and atl3), and atl1 and atl3 are mutated in autosomal dominant hereditary spastic paraplegia and hereditary sensory neuropathies. 2017-05-15 2023-08-13 mouse
Ewelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa, Marta Rajkiewicz, Maria Rakowicz, Anna Sobanska, Monika Rudzinska, Anna Wasielewska, Jacek Pilch, Jolanta Kubalska, Wanda Lipczynska-Lojkowska, Jerzy Kulczycki, Katarzyna Kurdziel, Agata Sikorska, Christian Beetz, Jacek Zaremba, Anna Sule. Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. Journal of the neurological sciences. vol 359. issue 1-2. 2016-09-26. PMID:26671083. three genetic types, spg3 (atl1), spg4 (spast) and spg31 (reep1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (ad-hsps). 2016-09-26 2023-08-13 Not clear
Ewelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa, Marta Rajkiewicz, Maria Rakowicz, Anna Sobanska, Monika Rudzinska, Anna Wasielewska, Jacek Pilch, Jolanta Kubalska, Wanda Lipczynska-Lojkowska, Jerzy Kulczycki, Katarzyna Kurdziel, Agata Sikorska, Christian Beetz, Jacek Zaremba, Anna Sule. Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. Journal of the neurological sciences. vol 359. issue 1-2. 2016-09-26. PMID:26671083. molecular spectrum of the spast, atl1 and reep1 gene mutations associated with the most common hereditary spastic paraplegias in a group of polish patients. 2016-09-26 2023-08-13 Not clear
N Zhao, Y Sui, X F Li, W Liu, Y P Lu, W H Feng, C Ma, Y W Wang, H X Bao, F Huang, H Wang, D X Yi, W T Han, M Jian. Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation. Genetics and molecular research : GMR. vol 14. issue 4. 2016-09-02. PMID:26600529. mutation analysis of four chinese families with pure hereditary spastic paraplegia: pseudo- x-linked dominant inheritance and male lethality due to a novel atl1 mutation. 2016-09-02 2023-08-13 Not clear
Hyunwoong Park, Seong-Ho Kang, Seungman Park, So Yeon Kim, Soo Hyun Seo, Seung Jun Lee, Jung Ae Lee, Sung Im Cho, Jung-Joon Sung, Kwang-Woo Lee, Ji Yeon Kim, Sung Sup Park, Moon-Woo Seon. Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. Journal of the neurological sciences. vol 357. issue 1-2. 2016-06-29. PMID:26208798. mutational spectrum of the spast and atl1 genes in korean patients with hereditary spastic paraplegia. 2016-06-29 2023-08-13 Not clear
Hyunwoong Park, Seong-Ho Kang, Seungman Park, So Yeon Kim, Soo Hyun Seo, Seung Jun Lee, Jung Ae Lee, Sung Im Cho, Jung-Joon Sung, Kwang-Woo Lee, Ji Yeon Kim, Sung Sup Park, Moon-Woo Seon. Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. Journal of the neurological sciences. vol 357. issue 1-2. 2016-06-29. PMID:26208798. spastic paraplegia 4 (spast) is the most common type of uncomplicated autosomal dominant hsp (40% of such cases), and spastic paraplegia 3a (atl1) is the second most common. 2016-06-29 2023-08-13 Not clear
Xingjiao Lu, Zhidong Cen, Fei Xie, Zhiyuan Ouyang, Baorong Zhang, Guohua Zhao, Wei Lu. Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia. Journal of the neurological sciences. vol 347. issue 1-2. 2015-08-31. PMID:25454648. in this cohort of chinese patients with spastic paraplegia, spast and atl1 mutations were found in 5 of 17 hsp probands with ad family history and in 2 of 19 sporadic hsp patients. 2015-08-31 2023-08-13 Not clear
Peng-Peng Zhu, Kyle R Denton, Tyler Mark Pierson, Xue-Jun Li, Craig Blackston. Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A. Human molecular genetics. vol 23. issue 21. 2015-06-10. PMID:24908668. the most common early-onset form of pure, autosomal dominant hereditary spastic paraplegia is caused by mutation in the atl1 gene encoding the atlastin-1 gtpase, which mediates homotypic fusion of er tubules to form the polygonal er network. 2015-06-10 2023-08-13 human
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
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