| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Flavia Palombo, Alessandro Vaisfeld, Valentina Concetta Tropeano, Danara Ormanbekova, Isabelle Bacchi, Claudio Fiorini, Adelaide Peruzzi, Luca Morandi, Rocco Liguori, Valerio Carelli, Giovanni Rizz. Two more families supporting the existence of monogenic spinocerebellar ataxia 48. Neurogenetics. 2024-04-16. PMID:38625442. |
we here report clinical and genetic results of two apparently unrelated patients carrying the same stub1 variant(c.244g > t;p.asp82tyr) with normal tbp alleles and a clinical picture fully resembling sca48, including cerebellar ataxia, dysarthria and mild cognitive impairment. |
2024-04-16 |
2024-04-18 |
Not clear |
| Alexander Thorvaldsson, Pir Abdul Ahad Aziz Qureshi, Vikram Rao Bollinen. MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia. Journal of the Belgian Society of Radiology. vol 106. issue 1. 2022-12-26. PMID:36569391. |
mri findings in a patient with known scar-16 type stub1 associated cerebellar ataxia. |
2022-12-26 |
2023-08-14 |
Not clear |
| Sivakami Mylvaganam, Rebecca Earnshaw, Gregory Heymann, Suneil K Kalia, Lorraine V Kali. C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside. Current neuropharmacology. vol 19. issue 7. 2021-11-25. PMID:33200713. |
we also review clinical findings identifying mutations in stub1 as a cause of both autosomal recessive and autosomal dominant forms of cerebellar ataxia. |
2021-11-25 |
2023-08-13 |
human |
| Jean-Marie Ravel, Mehdi Benkirane, Nadège Calmels, Cecilia Marelli, Fabienne Ory-Magne, Claire Ewenczyk, Yosra Halleb, François Tison, Claire Lecocq, Guillaume Pische, Philippe Casenave, Annabelle Chaussenot, Solène Frismand, Louise Tyvaert, Lise Larrieu, Morgane Pointaux, Nathalie Drouot, Carine Bossenmeyer-Pourié, Abderrahim Oussalah, Jean-Louis Guéant, Bruno Leheup, Céline Bonnet, Mathieu Anheim, Christine Tranchant, Laëtitia Lambert, Jamel Chelly, Michel Koenig, Mathilde Renau. Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia. Journal of neurology. vol 268. issue 5. 2021-06-18. PMID:33417001. |
pathogenic variations in stub1 are now considered a frequent cause of cerebellar ataxia. |
2021-06-18 |
2023-08-13 |
Not clear |
| Hsu-Huai Chiu, Cheng-Tsung Hsaio, Yu-Shuen Tsai, Yi-Chu Liao, Yi-Chung Lee, Bing-Wen Soon. Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan. Cerebellum (London, England). vol 19. issue 4. 2021-05-17. PMID:32367277. |
mutations in stub1 have been identified to cause autosomal recessive spinocerebellar ataxia type 16 (scar16), also named as gordon holmes syndrome, which is characterized by cerebellar ataxia, cognitive decline, and hypogonadism. |
2021-05-17 |
2023-08-13 |
Not clear |
| Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Dur. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. Genetics in medicine : official journal of the American College of Medical Genetics. vol 22. issue 11. 2021-04-28. PMID:32713943. |
pathogenic variants in stub1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (sca48). |
2021-04-28 |
2023-08-13 |
Not clear |
| Burcu Turkgenc, Burcin Sanlidag, Amber Eker, Aslı Giray, Ozgur Kutuk, Cengiz Yakicier, Aslıhan Tolun, Sehime G Teme. STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16. Human mutation. vol 39. issue 10. 2019-08-13. PMID:30058754. |
we present three siblings afflicted with a disease characterized by cerebellar ataxia, cerebellar atrophy, pyramidal tract damage with increased lower limb tendon reflexes, and onset of 31 to 57 years, which is not typical for a known disease. in a region of shared homozygosity in patients, exome sequencing revealed novel homozygous c.*240t > c variant in the 3'utr of stub1, the gene responsible for autosomal recessive spinocerebellar ataxia 16 (scar16). |
2019-08-13 |
2023-08-13 |
Not clear |
| Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets, Matthis Synofzi. STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations. Orphanet journal of rare diseases. vol 12. issue 1. 2017-11-30. PMID:28193273. |
this gives rise to the hypothesis that mutations in stub1 might cause a far more multisystemic neurodegenerative phenotype than the previously reported cerebellar ataxia syndrome. |
2017-11-30 |
2023-08-13 |
Not clear |
| Chantal Depondt, Simona Donatello, Nicolas Simonis, Myriam Rai, Roxane van Heurck, Marc Abramowicz, Marc D'Hooghe, Massimo Pandolf. Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. Neurology. vol 82. issue 19. 2014-08-07. PMID:24719489. |
autosomal recessive cerebellar ataxia of adult onset due to stub1 mutations. |
2014-08-07 |
2023-08-13 |
Not clear |