| A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia. | A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia.
Wei Q, Wang PS, Dong HL, Luo WJ, Wu ZY, Li HF., Free PMC Article | 05/7/2022 |
| Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia. | Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia.
Bian X, Cheng G, Sun X, Liu H, Zhang X, Han Y, Li B, Li N., Free PMC Article | 01/15/2022 |
| Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. | Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L., Free PMC Article | 07/24/2021 |
| Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project. | Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Bourinaris T, Smedley D, Cipriani V, Sheikh I, Athanasiou-Fragkouli A, Chinnery P, Morris H, Real R, Harrison V, Reid E, Wood N, Genomics England Research Consortium, Vandrovcova J, Houlden H, Tucci A., Free PMC Article | 06/5/2021 |
| mRNA in the fibroblasts of individuals with pathological truncating variants in UBAP1 escapes nonsense-mediated decay and thus leads to the expression of truncated proteins. In addition, concentrations of the full-length protein are reduced in comparison to those in controls. This suggests either a dominant-negative effect or haploinsufficiency. | Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA, Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA., Free PMC Articles: PMC6451742, PMC6451742 | 01/26/2021 |
| Our study provides genetic and biochemical evidence that mutations in UBAP1 can cause pure autosomal dominant spastic paraplegia. | Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.
Lin X, Su HZ, Dong EL, Lin XH, Zhao M, Yang C, Wang C, Wang J, Chen YJ, Yu H, Xu J, Ma LX, Xiong ZQ, Wang N, Chen WJ. | 05/30/2020 |
| UBAP1 links endosomal trafficking to the ubiquitination machinery pathways that have been previously implicated in Hereditary Spastic Paraplegia | Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA, Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA., Free PMC Articles: PMC6451742, PMC6451742 | 02/8/2020 |
| The full-length UBAP1 protein is involved in endosomal dynamics in neurons, while loss of UBAP1 function may perturb endosomal fusion and sorting of ubiquitinated cargos. These effects could be more prominent in neurons, thereby giving rise to the phenotype of a neurodegenerative disease such as hereditary spastic paraplegia. | UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes.
Nan H, Ichinose Y, Tanaka M, Koh K, Ishiura H, Mitsui J, Mizukami H, Morimoto M, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y. | 02/8/2020 |
| Combined targeting of UBAP1 and toll-like receptor adaptors TIRAP and MyD88 by Pseudomonas aeruginosa PumA impedes both cytokine and toll-like receptor signalling, highlighting a novel strategy for innate immune evasion. | A Pseudomonas aeruginosa TIR effector mediates immune evasion by targeting UBAP1 and TLR adaptors.
Imbert PR, Louche A, Luizet JB, Grandjean T, Bigot S, Wood TE, Gagné S, Blanco A, Wunderley L, Terradot L, Woodman P, Garvis S, Filloux A, Guery B, Salcedo SP., Free PMC Article | 07/15/2017 |
| Results present crystal structures of the coiled-coil domain of the HD-PTP phosphatase and its complex with UBAP1. The coiled-coil domain adopts an unexpected open and rigid conformation. The HD-PTP:UBAP1 structure identifies the molecular determinants of the interaction and provides a molecular basis for the specific functional cooperation between HD-PTP and UBAP1. | Structural Basis for Selective Interaction between the ESCRT Regulator HD-PTP and UBAP1.
Gahloth D, Levy C, Heaven G, Stefani F, Wunderley L, Mould P, Cliff MJ, Bella J, Fielding AJ, Woodman P, Tabernero L., Free PMC Article | 07/1/2017 |
| The biochemical specificity in ESCRT-I assembly is matched by functional specialisation as siRNA-mediated depletion of UBAP1 | The molecular basis for selective assembly of the UBAP1-containing endosome-specific ESCRT-I complex.
Wunderley L, Brownhill K, Stefani F, Tabernero L, Woodman P., Free PMC Article | 09/20/2014 |
| The upregulation of ubap1 gene expression mainly and the downregulation of p16 gene expression mainly may simultaneously participate in the pathogenesis of acute leukemia. | [Expression of ubiquitin associated protein 1 gene and tumor-suppressor gene p16 in acute leukemia].
Guan LJ, Zhang JH, Wang YX, Zhang N, Hu YP, Li ZG, Zhao W. | 10/15/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?
Venturelli E, Villa C, Fenoglio C, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Scalabrini D, Cortini F, Fumagalli G, Cappa S, Binetti G, Franceschi M, Rainero I, Giordana MT, Mariani C, Bresolin N, Scarpini E, Galimberti D. | 09/15/2010 |
| Our data for the first time identifies UBAP1 as a genetic risk factor for FTLD and suggests a mechanistic relationship between this protein and TDP-43. | Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration.
Rollinson S, Rizzu P, Sikkink S, Baker M, Halliwell N, Snowden J, Traynor BJ, Ruano D, Cairns N, Rohrer JD, Mead S, Collinge J, Rossor M, Akay E, Guerreiro R, Rademakers R, Morrison KE, Pastor P, Alonso E, Martinez-Lage P, Graff-Radford N, Neary D, Heutink P, Mann DM, Van Swieten J, Pickering-Brown SM., Free PMC Article | 01/21/2010 |
| Decreased expression of UBAP1 protein is a possible point of dysfunction along the pathogenesis pathway for nasopharyngeal carcinoma that may contribute to malignant transformation. | Purification of novel UBAP1 protein and its decreased expression on nasopharyngeal carcinoma tissue microarray.
Xiao B, Fan S, Zeng Z, Xiong W, Cao L, Yang Y, Li W, Wang R, Tang K, Qian J, Shen S, Li X, Li G. | 01/21/2010 |
| the identification of differential expression patterns of ubap1 in different tumors. | [Identification of digital differential expression patterns of a novel human gene (UBAP1) by an expressed sequence tag strategy].
Qian J, Zhang XM, Li XL, Wang JR, Li WF, Wang R, Li GY. | 01/21/2010 |