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Journal Abstract Search

212 related items for PubMed ID: 30308956

  • 21. Cholesterol glucosylation is catalyzed by transglucosylation reaction of β-glucosidase 1.
    Akiyama H, Kobayashi S, Hirabayashi Y, Murakami-Murofushi K.
    Biochem Biophys Res Commun; 2013 Nov 29; 441(4):838-43. PubMed ID: 24211208
    [Abstract] [Full Text] [Related]

  • 22. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
    Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I, SYNAPSE Study GroupSee Document S1 for list of collaborators., Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H.
    Am J Hum Genet; 2017 Jun 01; 100(6):969-977. PubMed ID: 28575651
    [Abstract] [Full Text] [Related]

  • 23. 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 Jun 01; 15(6):e0233856. PubMed ID: 32492073
    [Abstract] [Full Text] [Related]

  • 24. Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.
    Dibilio V, Cavalcanti F, Nicoletti A, Mostile G, Bruno E, Annesi G, Tarantino P, Gagliardi M, Gambardella A, Quattrone A, Zappia M.
    Cerebellum; 2013 Aug 01; 12(4):589-92. PubMed ID: 23338241
    [No Abstract] [Full Text] [Related]

  • 25. 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 06; 288(36):26052-26066. PubMed ID: 23880767
    [Abstract] [Full Text] [Related]

  • 26. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
    Zech M, Brunet T, Škorvánek M, Blaschek A, Vill K, Hanker B, Hüning I, Haň V, Došekova P, Gdovinová Z, Alhaddad B, Berutti R, Strom TM, Růžička E, Kamsteeg EJ, van der Smagt JJ, Wagner M, Jech R, Winkelmann J.
    Parkinsonism Relat Disord; 2020 Aug 06; 77():70-75. PubMed ID: 32629324
    [Abstract] [Full Text] [Related]

  • 27. 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 15; 11(7):1891-900. PubMed ID: 27115290
    [Abstract] [Full Text] [Related]

  • 28. Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.
    Bettencourt C, de Yébenes JG, López-Sendón JL, Shomroni O, Zhang X, Qian SB, Bakker IM, Heetveld S, Ros R, Quintáns B, Sobrido MJ, Bevova MR, Jain S, Bugiani M, Heutink P, Rizzu P.
    Cerebellum; 2015 Jun 15; 14(3):378-81. PubMed ID: 25592071
    [No Abstract] [Full Text] [Related]

  • 29. Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation.
    Faruq M, Kumar D, Wadhwa S, Shamim U, Mathur A, Parveen S, Garg A, Srivastava AK.
    Clin Genet; 2019 Sep 15; 96(3):271-273. PubMed ID: 31286494
    [No Abstract] [Full Text] [Related]

  • 30. Spastic ataxias.
    Bereznyakova O, Dupré N.
    Handb Clin Neurol; 2018 Sep 15; 155():191-203. PubMed ID: 29891058
    [Abstract] [Full Text] [Related]

  • 31. Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
    Thal DR, Züchner S, Gierer S, Schulte C, Schöls L, Schüle R, Synofzik M.
    Int J Mol Sci; 2015 Oct 21; 16(10):25050-66. PubMed ID: 26506339
    [Abstract] [Full Text] [Related]

  • 32. Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood.
    Sahin T, Karaarslan FT, Yilmaz R, Tekgül Ş, Başak AN, Akbostanci MC.
    Clin Neurol Neurosurg; 2021 Feb 21; 201():106423. PubMed ID: 33348119
    [No Abstract] [Full Text] [Related]

  • 33. Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.
    Burke DG, Rahim AA, Waddington SN, Karlsson S, Enquist I, Bhatia K, Mehta A, Vellodi A, Heales S.
    J Inherit Metab Dis; 2013 Sep 21; 36(5):869-72. PubMed ID: 23151684
    [Abstract] [Full Text] [Related]

  • 34. The Enigmatic Role of GBA2 in Controlling Locomotor Function.
    Woeste MA, Wachten D.
    Front Mol Neurosci; 2017 Sep 21; 10():386. PubMed ID: 29234271
    [Abstract] [Full Text] [Related]

  • 35. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
    Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G.
    Neurogenetics; 2021 Mar 21; 22(1):71-79. PubMed ID: 33486633
    [Abstract] [Full Text] [Related]

  • 36. Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family.
    Dalal A, Bhowmik AD, Agarwal D, Phadke SR.
    Indian J Med Res; 2015 Aug 21; 142(2):220-4. PubMed ID: 26354221
    [No Abstract] [Full Text] [Related]

  • 37. Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.
    Hosseini Bereshneh A, Hosseipour S, Rasoulinezhad MS, Pak N, Garshasbi M, Tavasoli AR.
    Eur J Med Genet; 2020 May 21; 63(5):103868. PubMed ID: 32004679
    [Abstract] [Full Text] [Related]

  • 38. 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 27; 400(6):745-752. PubMed ID: 30864417
    [Abstract] [Full Text] [Related]

  • 39. GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.
    Haugarvoll K, Johansson S, Rodriguez CE, Boman H, Haukanes BI, Bruland O, Roque F, Jonassen I, Blomqvist M, Telstad W, Månsson JE, Knappskog PM, Bindoff LA.
    PLoS One; 2017 May 27; 12(1):e0169309. PubMed ID: 28052128
    [Abstract] [Full Text] [Related]

  • 40. Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice.
    Marques AR, Aten J, Ottenhoff R, van Roomen CP, Herrera Moro D, Claessen N, Vinueza Veloz MF, Zhou K, Lin Z, Mirzaian M, Boot RG, De Zeeuw CI, Overkleeft HS, Yildiz Y, Aerts JM.
    PLoS One; 2015 May 27; 10(8):e0135889. PubMed ID: 26275242
    [Abstract] [Full Text] [Related]

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