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 *

171 related articles for article (PubMed ID: 29234271)

  • 1. The Enigmatic Role of GBA2 in Controlling Locomotor Function.
    Woeste MA; Wachten D
    Front Mol Neurosci; 2017; 10():386. PubMed ID: 29234271
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations.
    Woeste MA; Stern S; Raju DN; Grahn E; Dittmann D; Gutbrod K; Dörmann P; Hansen JN; Schonauer S; Marx CE; Hamzeh H; Körschen HG; Aerts JMFG; Bönigk W; Endepols H; Sandhoff R; Geyer M; Berger TK; Bradke F; Wachten D
    J Biol Chem; 2019 Mar; 294(11):3853-3871. PubMed ID: 30662006
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biochemical Characterization of the
    Malekkou A; Samarani M; Drousiotou A; Votsi C; Sonnino S; Pantzaris M; Chiricozzi E; Zamba-Papanicolaou E; Aureli M; Loberto N; Christodoulou K
    Int J Mol Sci; 2018 Oct; 19(10):. PubMed ID: 30308956
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).
    Sultana S; Reichbauer J; Schüle R; Mochel F; Synofzik M; van der Spoel AC
    Biochem Biophys Res Commun; 2015 Sep; 465(1):35-40. PubMed ID: 26220345
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
    Martin E; Schüle R; Smets K; Rastetter A; Boukhris A; Loureiro JL; Gonzalez MA; Mundwiller E; Deconinck T; Wessner M; Jornea L; Oteyza AC; Durr A; Martin JJ; Schöls L; Mhiri C; Lamari F; Züchner S; De Jonghe P; Kabashi E; Brice A; Stevanin G
    Am J Hum Genet; 2013 Feb; 92(2):238-44. PubMed ID: 23332916
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in
    Algahtani H; Shirah B; Ullah I; Al-Qahtani MH; Abdulkareem AA; Naseer MI
    Genes Dis; 2021 Jan; 8(1):110-114. PubMed ID: 33569519
    [TBL] [Abstract][Full Text] [Related]  

  • 7. β-Glucosidase 2 (GBA2) activity and imino sugar pharmacology.
    Ridley CM; Thur KE; Shanahan J; Thillaiappan NB; Shen A; Uhl K; Walden CM; Rahim AA; Waddington SN; Platt FM; van der Spoel AC
    J Biol Chem; 2013 Sep; 288(36):26052-26066. PubMed ID: 23880767
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Current and Novel Aspects on the Non-lysosomal β-Glucosylceramidase GBA2.
    Massimo A; Maura S; Nicoletta L; Giulia M; Valentina M; Elena C; Alessandro P; Rosaria B; Sandro S
    Neurochem Res; 2016 Feb; 41(1-2):210-20. PubMed ID: 26603294
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans.
    Harzer K; Blech-Hermoni Y; Goldin E; Felderhoff-Mueser U; Igney C; Sidransky E; Yildiz Y
    Biochem Biophys Res Commun; 2012 Jun; 423(2):308-12. PubMed ID: 22659419
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
    Hammer MB; Eleuch-Fayache G; Schottlaender LV; Nehdi H; Gibbs JR; Arepalli SK; Chong SB; Hernandez DG; Sailer A; Liu G; Mistry PK; Cai H; Shrader G; Sassi C; Bouhlal Y; Houlden H; Hentati F; Amouri R; Singleton AB
    Am J Hum Genet; 2013 Feb; 92(2):245-51. PubMed ID: 23332917
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel mutation in the
    Nakamura-Shindo K; Ono K; Koh K; Ishiura H; Tsuji S; Takiyama Y; Yamada M
    eNeurologicalSci; 2020 Jun; 19():100238. PubMed ID: 32280793
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2.
    Boot RG; Verhoek M; Donker-Koopman W; Strijland A; van Marle J; Overkleeft HS; Wennekes T; Aerts JM
    J Biol Chem; 2007 Jan; 282(2):1305-12. PubMed ID: 17105727
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Assay of β-glucosidase 2 (GBA2) activity using lithocholic acid β-3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue.
    Harzer K; Yildiz Y; Beck-Wödl S
    Biol Chem; 2019 May; 400(6):745-752. PubMed ID: 30864417
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi.
    Körschen HG; Yildiz Y; Raju DN; Schonauer S; Bönigk W; Jansen V; Kremmer E; Kaupp UB; Wachten D
    J Biol Chem; 2013 Feb; 288(5):3381-93. PubMed ID: 23250757
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel GBA2 gene missense mutation in spastic ataxia.
    Votsi C; Zamba-Papanicolaou E; Middleton LT; Pantzaris M; Christodoulou K
    Ann Hum Genet; 2014 Jan; 78(1):13-22. PubMed ID: 24252062
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease.
    Schonauer S; Körschen HG; Penno A; Rennhack A; Breiden B; Sandhoff K; Gutbrod K; Dörmann P; Raju DN; Haberkant P; Gerl MJ; Brügger B; Zigdon H; Vardi A; Futerman AH; Thiele C; Wachten D
    J Biol Chem; 2017 Apr; 292(15):6177-6189. PubMed ID: 28258214
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.
    Cioffi E; Coppola G; Musumeci O; Gallone S; Silvestri G; Rossi S; Piemonte F; D'Amico J; Tessa A; Santorelli FM; Casali C
    Neurogenetics; 2024 Apr; 25(2):51-67. PubMed ID: 38334933
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Bacterial β-Glucosidase Reveals the Structural and Functional Basis of Genetic Defects in Human Glucocerebrosidase 2 (GBA2).
    Charoenwattanasatien R; Pengthaisong S; Breen I; Mutoh R; Sansenya S; Hua Y; Tankrathok A; Wu L; Songsiriritthigul C; Tanaka H; Williams SJ; Davies GJ; Kurisu G; Cairns JR
    ACS Chem Biol; 2016 Jul; 11(7):1891-900. PubMed ID: 27115290
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Role of β-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish.
    Lelieveld LT; Mirzaian M; Kuo CL; Artola M; Ferraz MJ; Peter REA; Akiyama H; Greimel P; van den Berg RJBHN; Overkleeft HS; Boot RG; Meijer AH; Aerts JMFG
    J Lipid Res; 2019 Nov; 60(11):1851-1867. PubMed ID: 31562193
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation.
    Sultana S; Stewart J; van der Spoel AC
    PLoS One; 2020; 15(6):e0233856. PubMed ID: 32492073
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.