These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 33417001)

  • 21. CARPs regulate STUB1 and its pathogenic mutants aggregation kinetics by mono-ubiquitination.
    Sharma R; Mondal P; Srinivasula SM
    FEBS J; 2023 Jul; 290(14):3580-3594. PubMed ID: 36853170
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish.
    Pakdaman Y; Denker E; Austad E; Norton WHJ; Rolfsnes HO; Bindoff LA; Tzoulis C; Aukrust I; Knappskog PM; Johansson S; Ellingsen S
    Front Mol Neurosci; 2021; 14():723912. PubMed ID: 34630034
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Heterozygous
    Chen DH; Latimer C; Yagi M; Ndugga-Kabuye MK; Heigham E; Jayadev S; Meabon JS; Gomez CM; Keene CD; Cook DG; Raskind WH; Bird TD
    Neurol Genet; 2020 Apr; 6(2):1-13. PubMed ID: 32211513
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Two more families supporting the existence of monogenic spinocerebellar ataxia 48.
    Palombo F; Vaisfeld A; Tropeano VC; Ormanbekova D; Bacchi I; Fiorini C; Peruzzi A; Morandi L; Liguori R; Carelli V; Rizzo G
    Neurogenetics; 2024 Jul; 25(3):277-280. PubMed ID: 38625442
    [TBL] [Abstract][Full Text] [Related]  

  • 25. STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.
    Hayer SN; Deconinck T; Bender B; Smets K; Züchner S; Reich S; Schöls L; Schüle R; De Jonghe P; Baets J; Synofzik M
    Orphanet J Rare Dis; 2017 Feb; 12(1):31. PubMed ID: 28193273
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Changes in protein function underlie the disease spectrum in patients with CHIP mutations.
    Madrigal SC; McNeil Z; Sanchez-Hodge R; Shi CH; Patterson C; Scaglione KM; Schisler JC
    J Biol Chem; 2019 Dec; 294(50):19236-19245. PubMed ID: 31619515
    [TBL] [Abstract][Full Text] [Related]  

  • 27.
    Pakdaman Y; Sanchez-Guixé M; Kleppe R; Erdal S; Bustad HJ; Bjørkhaug L; Haugarvoll K; Tzoulis C; Heimdal K; Knappskog PM; Johansson S; Aukrust I
    Biosci Rep; 2017 Apr; 37(2):. PubMed ID: 28396517
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.
    Synofzik M; Schüle R; Schulze M; Gburek-Augustat J; Schweizer R; Schirmacher A; Krägeloh-Mann I; Gonzalez M; Young P; Züchner S; Schöls L; Bauer P
    Orphanet J Rare Dis; 2014 Apr; 9():57. PubMed ID: 24742043
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in
    Reis MC; Patrun J; Ackl N; Winter P; Scheifele M; Danek A; Nolte D
    Front Mol Neurosci; 2022; 15():878236. PubMed ID: 35493319
    [TBL] [Abstract][Full Text] [Related]  

  • 30. STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
    Heimdal K; Sanchez-Guixé M; Aukrust I; Bollerslev J; Bruland O; Jablonski GE; Erichsen AK; Gude E; Koht JA; Erdal S; Fiskerstrand T; Haukanes BI; Boman H; Bjørkhaug L; Tallaksen CM; Knappskog PM; Johansson S
    Orphanet J Rare Dis; 2014 Sep; 9():146. PubMed ID: 25258038
    [TBL] [Abstract][Full Text] [Related]  

  • 31.
    Cocozza S; Santorelli FM; De Michele G
    Mov Disord Clin Pract; 2020 Aug; 7(6):733-734. PubMed ID: 32775533
    [No Abstract]   [Full Text] [Related]  

  • 32. C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside.
    Mylvaganam S; Earnshaw R; Heymann G; Kalia SK; Kalia LV
    Curr Neuropharmacol; 2021; 19(7):1038-1068. PubMed ID: 33200713
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.
    Depondt C; Donatello S; Simonis N; Rai M; van Heurck R; Abramowicz M; D'Hooghe M; Pandolfo M
    Neurology; 2014 May; 82(19):1749-50. PubMed ID: 24719489
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP.
    Kanack AJ; Newsom OJ; Scaglione KM
    J Biol Chem; 2018 Feb; 293(8):2735-2743. PubMed ID: 29317501
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia.
    Liu L; Chen J; Zhang G; Lin Z; Chen D; Hu J
    Cerebellum; 2024 Aug; 23(4):1705-1711. PubMed ID: 38342844
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical and pathologic phenotype of a large family with heterozygous
    Mol MO; van Rooij JGJ; Brusse E; Verkerk AJMH; Melhem S; den Dunnen WFA; Rizzu P; Cupidi C; van Swieten JC; Donker Kaat L
    Neurol Genet; 2020 Jun; 6(3):e417. PubMed ID: 32337344
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16.
    Shi CH; Rubel C; Soss SE; Sanchez-Hodge R; Zhang S; Madrigal SC; Ravi S; McDonough H; Page RC; Chazin WJ; Patterson C; Mao CY; Willis MS; Luo HY; Li YS; Stevens DA; Tang MB; Du P; Wang YH; Hu ZW; Xu YM; Schisler JC
    PLoS Genet; 2018 Sep; 14(9):e1007664. PubMed ID: 30222779
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16.
    Schuster S; Schelling Y; Synofzik M; Höflinger P; Schöls L; Hauser S
    Stem Cell Res; 2018 May; 29():166-169. PubMed ID: 29679845
    [TBL] [Abstract][Full Text] [Related]  

  • 39. MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia.
    Thorvaldsson A; Qureshi PAAA; Rao Bollineni V
    J Belg Soc Radiol; 2022; 106(1):131. PubMed ID: 36569391
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.
    Cabet S; Putoux A; Carneiro M; Labalme A; Sanlaville D; Guibaud L; Lesca G
    Eur J Med Genet; 2019 Oct; 62(10):103726. PubMed ID: 31319223
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.