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Items: 33


A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease.

Aflaki E, Stubblefield BK, McGlinchey RP, McMahon B, Ory DS, Sidransky E.

Neurobiol Dis. 2019 Nov 9;134:104647. doi: 10.1016/j.nbd.2019.104647. [Epub ahead of print]


Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.

Hassan S, Lopez G, Stubblefield BK, Tayebi N, Sidransky E.

Mol Genet Metab. 2018 Sep;125(1-2):1-3. doi: 10.1016/j.ymgme.2018.06.013. Epub 2018 Jun 28.


A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.

Aflaki E, Borger DK, Moaven N, Stubblefield BK, Rogers SA, Patnaik S, Schoenen FJ, Westbroek W, Zheng W, Sullivan P, Fujiwara H, Sidhu R, Khaliq ZM, Lopez GJ, Goldstein DS, Ory DS, Marugan J, Sidransky E.

J Neurosci. 2016 Jul 13;36(28):7441-52. doi: 10.1523/JNEUROSCI.0636-16.2016.


Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs.

Aflaki E, Stubblefield BK, Maniwang E, Lopez G, Moaven N, Goldin E, Marugan J, Patnaik S, Dutra A, Southall N, Zheng W, Tayebi N, Sidransky E.

Sci Transl Med. 2014 Jun 11;6(240):240ra73. doi: 10.1126/scitranslmed.3008659.


Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease.

Panicker LM, Miller D, Park TS, Patel B, Azevedo JL, Awad O, Masood MA, Veenstra TD, Goldin E, Stubblefield BK, Tayebi N, Polumuri SK, Vogel SN, Sidransky E, Zambidis ET, Feldman RA.

Proc Natl Acad Sci U S A. 2012 Oct 30;109(44):18054-9. doi: 10.1073/pnas.1207889109. Epub 2012 Oct 15.


A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.

Saranjam H, Chopra SS, Levy H, Stubblefield BK, Maniwang E, Cohen IJ, Baris H, Sidransky E, Tayebi N.

Eur J Hum Genet. 2013 Jan;21(1):115-7. doi: 10.1038/ejhg.2012.105. Epub 2012 Jun 20.


A mutation in SCARB2 is a modifier in Gaucher disease.

Velayati A, DePaolo J, Gupta N, Choi JH, Moaven N, Westbroek W, Goker-Alpan O, Goldin E, Stubblefield BK, Kolodny E, Tayebi N, Sidransky E.

Hum Mutat. 2011 Nov;32(11):1232-8. doi: 10.1002/humu.21566. Epub 2011 Sep 15.


Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease.

Velayati A, Knight MA, Stubblefield BK, Sidransky E, Tayebi N.

J Mol Diagn. 2011 Jul;13(4):401-5. doi: 10.1016/j.jmoldx.2011.02.005.


Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity.

Marugan JJ, Zheng W, Motabar O, Southall N, Goldin E, Westbroek W, Stubblefield BK, Sidransky E, Aungst RA, Lea WA, Simeonov A, Leister W, Austin CP.

J Med Chem. 2011 Feb 24;54(4):1033-58. doi: 10.1021/jm1008902. Epub 2011 Jan 20.


Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders.

Goker-Alpan O, Stubblefield BK, Giasson BI, Sidransky E.

Acta Neuropathol. 2010 Nov;120(5):641-9. doi: 10.1007/s00401-010-0741-7. Epub 2010 Sep 14.


False-positive results using a Gaucher diagnostic kit--RecTL and N370S.

Choi JH, Velayati A, Stubblefield BK, Orr-Urtreger A, Gan-Or Z, Tayebi N, Sidransky E.

Mol Genet Metab. 2010 May;100(1):100-2. doi: 10.1016/j.ymgme.2009.12.017. Epub 2010 Jan 4.


In silico and functional studies of the regulation of the glucocerebrosidase gene.

Blech-Hermoni YN, Ziegler SG, Hruska KS, Stubblefield BK, Lamarca ME, Portnoy ME; NISC Comparative Sequencing Program, Green ED, Sidransky E.

Mol Genet Metab. 2010 Mar;99(3):275-82. doi: 10.1016/j.ymgme.2009.10.189. Epub 2009 Nov 4.


Glucocerebrosidase mutation H255Q appears to be exclusively in cis with D409H: structural implications.

Vithayathil J, Gibney G, Baxevanis AD, Stubblefield BK, Sidransky E, Tayebi N.

Clin Genet. 2009 May;75(5):503-4. doi: 10.1111/j.1399-0004.2009.01163.x. No abstract available.


Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.

Ziegler SG, Eblan MJ, Gutti U, Hruska KS, Stubblefield BK, Goker-Alpan O, LaMarca ME, Sidransky E.

Mol Genet Metab. 2007 Jun;91(2):195-200. Epub 2007 Apr 25.


Divergent phenotypes in Gaucher disease implicate the role of modifiers.

Goker-Alpan O, Hruska KS, Orvisky E, Kishnani PS, Stubblefield BK, Schiffmann R, Sidransky E.

J Med Genet. 2005 Jun;42(6):e37.


DNA targeting of rhinal cortex D2 receptor protein reversibly blocks learning of cues that predict reward.

Liu Z, Richmond BJ, Murray EA, Saunders RC, Steenrod S, Stubblefield BK, Montague DM, Ginns EI.

Proc Natl Acad Sci U S A. 2004 Aug 17;101(33):12336-41. Epub 2004 Aug 9.


Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E.

J Pediatr. 2003 Aug;143(2):273-6.


Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefield BK, Martin BM, Schiffmann R, Sidransky E.

Pediatr Res. 2003 Mar;53(3):387-95.


Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.

Tayebi N, Stubblefield BK, Park JK, Orvisky E, Walker JM, LaMarca ME, Sidransky E.

Am J Hum Genet. 2003 Mar;72(3):519-34. Epub 2003 Feb 13.


The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

Orvisky E, Park JK, Parker A, Walker JM, Martin BM, Stubblefield BK, Uyama E, Tayebi N, Sidransky E.

Hum Mutat. 2002 Apr;19(4):458-9.


The E326K mutation and Gaucher disease: mutation or polymorphism?

Park JK, Tayebi N, Stubblefield BK, LaMarca ME, MacKenzie JJ, Stone DL, Sidransky E.

Clin Genet. 2002 Jan;61(1):32-4.


Gaucher disease and parkinsonism: a phenotypic and genotypic characterization.

Tayebi N, Callahan M, Madike V, Stubblefield BK, Orvisky E, Krasnewich D, Fillano JJ, Sidransky E.

Mol Genet Metab. 2001 Aug;73(4):313-21.


Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.

Reissner K, Tayebi N, Stubblefield BK, Koprivica V, Blitzer M, Holleran W, Cowan T, Almashanu S, Maddalena A, Karson EM, Sidransky E.

Mol Genet Metab. 1998 Apr;63(4):281-8.


Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.

Tayebi N, Reissner KJ, Lau EK, Stubblefield BK, Klineburgess AC, Martin BM, Sidransky E.

Pediatr Res. 1998 May;43(5):571-8.


Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene.

Tayebi N, Cushner SR, Kleijer W, Lau EK, Damschroder-Williams PJ, Stubblefield BK, Den Hollander J, Sidransky E.

Am J Med Genet. 1997 Nov 28;73(1):41-7.


The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

Sidransky E, Tayebi N, Stubblefield BK, Eliason W, Klineburgess A, Pizzolato GP, Cox JN, Porta J, Bottani A, DeLozier-Blanchet CD.

J Med Genet. 1996 Feb;33(2):132-6.


Direct sequencing of trinucleotide repeats from cosmid genomic DNA template.

Philibert RA, Hawkins GA, Damschroder-Williams P, Stubblefield BK, Martin BM, Ginns EI.

Anal Biochem. 1995 Mar 1;225(2):372-4. No abstract available.


Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.

Tybulewicz VL, Tremblay ML, LaMarca ME, Willemsen R, Stubblefield BK, Winfield S, Zablocka B, Sidransky E, Martin BM, Huang SP, et al.

Nature. 1992 Jun 4;357(6377):407-10.


Gaucher patients with oculomotor abnormalities do not have a unique genotype.

Sidransky E, Tsuji S, Stubblefield BK, Currie J, FitzGibbon EJ, Ginns EI.

Clin Genet. 1992 Jan;41(1):1-5.


Regional distribution of the GABAA/benzodiazepine receptor (alpha subunit) mRNA in rat brain.

Montpied P, Martin BM, Cottingham SL, Stubblefield BK, Ginns EI, Paul SM.

J Neurochem. 1988 Nov;51(5):1651-4.


Human tyrosine hydroxylase (TH) genomic fragment (pHGTH4) identifies a PstI polymorphism.

Kelsoe JR, Stubblefield BK, Ginns EI.

Nucleic Acids Res. 1988 Aug 11;16(15):7760. No abstract available.


Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.

Tsuji S, Martin BM, Barranger JA, Stubblefield BK, LaMarca ME, Ginns EI.

Proc Natl Acad Sci U S A. 1988 Apr;85(7):2349-52. Erratum in: Proc Natl Acad Sci U S A 1988 Aug;85(15):5708.


A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.

Tsuji S, Choudary PV, Martin BM, Stubblefield BK, Mayor JA, Barranger JA, Ginns EI.

N Engl J Med. 1987 Mar 5;316(10):570-5.


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