| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Ana Pedro-Ibor, Teresa Jaijo, Andrea Del Valle-Carranza, Irene Martínez-Torres, Jose M Millán, Luis Bataller, Elena Alle. STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8. Movement disorders : official journal of the Movement Disorder Society. 2024-07-04. PMID:38962894. |
stub1 mutations as possible genetic modifiers in spinocerebellar ataxia type 8. |
2024-07-04 |
2024-07-10 |
Not clear |
| Rahul Sharma, Prema Mondal, Srinivasa M Srinivasul. CARPs regulate STUB1 and its pathogenic mutants aggregation kinetics by mono-ubiquitination. The FEBS journal. 2023-02-28. PMID:36853170. |
in spinocerebellar ataxia 16 (sca16), an autosomal recessive neurodegenerative disease, mutations in and aggregation of stub1 are reported. |
2023-02-28 |
2023-08-14 |
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. |
she has a family history of spinocerebellar ataxia and has known stub1 mutation. |
2022-12-26 |
2023-08-14 |
Not clear |
| Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, Maximilien Porché, Léna Guillot-Noel, Sabrina Sayah, Anne-Laure Fauret, Jean-Philippe Neau, Lucie Guyant-Maréchal, Didier Deffond, Christine Tranchant, Cyril Goizet, Giulia Coarelli, Anna Castrioto, Stephan Klebe, Claire Ewenczyk, Anna Heinzmann, Perrine Charles, Maya Tchikviladzé, Christine Van Broeckhoven, Alexis Brice, Alexandra Dur. Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias? Genetics in medicine : official journal of the American College of Medical Genetics. 2022-11-24. PMID:36422518. |
intermediate repeat expansions of tbp and stub1: genetic modifier or pure digenic inheritance in spinocerebellar ataxias? |
2022-11-24 |
2023-08-14 |
Not clear |
| A Umano, K Fang, Z Qu, J B Scaglione, S Altinok, C J Treadway, E T Wick, E Paulakonis, C Karunanayake, S Chou, T M Bardakjian, P Gonzalez-Alegre, R C Page, J C Schisler, N G Brown, D Yan, K M Scaglion. The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP. The Journal of biological chemistry. 2022-04-10. PMID:35398354. |
here we have identified a novel, de novo mutation in stub1 in a patient with spinocerebellar ataxia type 48 (sca48) encoding for an a52g point mutation in the tpr domain of chip. |
2022-04-10 |
2023-08-13 |
Not clear |
| Huan-Yun Chen, Chia-Lang Hsu, Han-Yi Lin, Yung-Feng Lin, Shih-Feng Tsai, Yu-Jung Ho, Ye-Ru Li, Jin-Wu Tsai, Shu-Chun Teng, Chin-Hsien Li. Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48). Journal of biomedical science. vol 28. issue 1. 2021-11-22. PMID:34565360. |
clinical and functional characterization of a novel stub1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (sca48). |
2021-11-22 |
2023-08-13 |
Not clear |
| Huan-Yun Chen, Chia-Lang Hsu, Han-Yi Lin, Yung-Feng Lin, Shih-Feng Tsai, Yu-Jung Ho, Ye-Ru Li, Jin-Wu Tsai, Shu-Chun Teng, Chin-Hsien Li. Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48). Journal of biomedical science. vol 28. issue 1. 2021-11-22. PMID:34565360. |
heterozygous pathogenic variants in stub1 are implicated in autosomal dominant spinocerebellar ataxia type 48 (sca48), which is a rare familial ataxia disorder. |
2021-11-22 |
2023-08-13 |
Not clear |
| R Palvadeau, Z E Kaya-Güleç, G Şimşir, A Vural, Ö Öztop-Çakmak, G Genç, M S Aygün, O Falay, A Nazlı Başak, S Erta. Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family. Neurogenetics. vol 21. issue 1. 2021-05-28. PMID:31741143. |
sca48 is a novel spinocerebellar ataxia (sca) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (ccas) and late-onset ataxia caused by mutations on the stub1 gene. |
2021-05-28 |
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. |
additionally, several heterozygous mutations in stub1 have recently been described as a cause of autosomal dominant spinocerebellar ataxia type 48. |
2021-05-17 |
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 |
| Giovanna De Michele, Daniele Galatolo, Melissa Barghigiani, Diletta Dello Iacovo, Rosanna Trovato, Alessandra Tessa, Elena Salvatore, Alessandro Filla, Giuseppe De Michele, Filippo M Santorell. Spinocerebellar ataxia type 48: last but not least. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 41. issue 9. 2021-05-14. PMID:32342324. |
biallelic mutations in stub1, which encodes the e3 ubiquitin ligase chip, were originally described in association with scar16, a rare autosomal recessive spinocerebellar ataxia, so far reported in 16 kindreds. |
2021-05-14 |
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 |
| M Lieto, V Riso, D Galatolo, G De Michele, S Rossi, M Barghigiani, S Cocozza, G Pontillo, R Trovato, F Saccà, E Salvatore, A Tessa, A Filla, F M Santorelli, G De Michele, G Silvestr. The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families. European journal of neurology. vol 27. issue 3. 2021-03-24. PMID:31571321. |
heterozygous mutations in the stub1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (sca) associated with cerebellar cognitive-affective syndrome (ccas), named sca48. |
2021-03-24 |
2023-08-13 |
Not clear |
| Sabrina C Madrigal, Zipporah McNeil, Rebekah Sanchez-Hodge, Chang-He Shi, Cam Patterson, Kenneth Matthew Scaglione, Jonathan C Schisle. Changes in protein function underlie the disease spectrum in patients with CHIP mutations. The Journal of biological chemistry. vol 294. issue 50. 2020-07-13. PMID:31619515. |
spinocerebellar ataxia autosomal recessive 16 (scar16) is caused by coding mutations in stub1, a gene that encodes the multifunctional enzyme chip (c terminus of hsc70-interacting protein). |
2020-07-13 |
2023-08-13 |
Not clear |
| Giovanna De Michele, Maria Lieto, Daniele Galatolo, Elena Salvatore, Sirio Cocozza, Melissa Barghigiani, Alessandra Tessa, Jacopo Baldacci, Sabina Pappatà, Alessandro Filla, Giuseppe De Michele, Filippo M Santorell. Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families. Parkinsonism & related disorders. vol 65. 2020-06-26. PMID:31126790. |
spinocerebellar ataxia 48 has recently been described as an adult onset ataxia associated with a cerebellar cognitive affective syndrome, caused by a heterozygous mutation in the stub1 gene. |
2020-06-26 |
2023-08-13 |
Not clear |
| Paola Rusmini, Katia Cortese, Valeria Crippa, Riccardo Cristofani, Maria Elena Cicardi, Veronica Ferrari, Giulia Vezzoli, Barbara Tedesco, Marco Meroni, Elio Messi, Margherita Piccolella, Mariarita Galbiati, Massimiliano Garrè, Elena Morelli, Thomas Vaccari, Angelo Polett. Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration. Autophagy. vol 15. issue 4. 2020-05-11. PMID:30335591. |
abbreviations: als: amyotrophic lateral sclerosis; ar: androgen receptor; atg: autophagy related; av: autophagic vacuole; bag3: bcl2-associated athanogene 3; becn1: beclin 1, autophagy related; casa: chaperone-assisted selective autophagy; ctsb: cathepsin b; dapi: 4',6-diamidino-2-phenylindole; dmem: dulbecco's modified eagle's medium; egfp: enhanced green fluorescent protein; fals, familial amyotrophic lateral sclerosis; fra: filter retardation assay; gapdh: glyceraldehyde-3-phosphate dehydrogenase; gla: galactosidase, alpha; hd: huntington disease; hipscs: human induced pluripotent stem cells; hspa8: heat shock protein a8; hspb8: heat shock protein b8; if: immunofluorescence analysis; lamp1: lysosomal-associated membrane protein 1; lamp2a: lysosomal-associated membrane protein 2a; lgals3: lectin, galactose binding, soluble 3; llome: l-leucyl-l-leucine methyl ester; lmp: lysosomal membrane permeabilization; lys: lysosomes; map1lc3b: microtubule-associated protein 1 light chain 3 beta; mcoln1: mucolipin 1; mrna: messenger rna; mtor: mechanistic target of rapamycin kinase; nds: neurodegenerative diseases; nsc34: neuroblastoma x spinal cord 34; pbs: phosphate-buffered saline; pd: parkinson disease; polyq: polyglutamine; ppargc1a: peroxisome proliferative activated receptor, gamma, coactivator 1 alpha; ppp3cb: protein phosphatase 3, catalytic subunit, beta isoform; rt-qpcr: real-time quantitative polymerase chain reaction; sbma: spinal and bulbar muscular atrophy; scas: spinocerebellar ataxias; sirna: small interfering rna; slc2a8: solute carrier family 2, (facilitated glucose transporter), member 8; smnpcs: small molecules neural progenitors cells; sod1: superoxide dismutase 1; sqstm1/p62: sequestosome 1; sted: stimulated emission depletion; stub1: stip1 homology and u-box containing protein 1; tardbp/tdp-43: tar dna binding protein; tfeb: transcription factor eb; tpp1: tripeptidyl peptidase i; treh: trehalase (brush-border membrane glycoprotein); wb: western blotting; zkscan3: zinc finger with krab and scan domains 3. |
2020-05-11 |
2023-08-13 |
human |
| 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 Schuster, Yvonne Schelling, Matthis Synofzik, Philip Höflinger, Ludger Schöls, Stefan Hause. Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16. Stem cell research. vol 29. 2019-01-23. PMID:29679845. |
here, we reprogrammed human skin fibroblasts from a 12-year-old male patient with recessive spinocerebellar ataxia type 16 (omim #615768), carrying compound heterozygous mutations (c.355c>t, c.880a>t) in stub1. |
2019-01-23 |
2023-08-13 |
human |