Publications:

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Exploring Pro-Inflammatory Immunological Mediators: Unraveling the Mechanisms of Neuroinflammation in Lysosomal Storage Diseases.

Biomedicines

Pandey, Manoj Kumar MK

Publication Date: 2023-04-01

Variant appearance in text: GC: D409V

PubMed Link: 37189685

Variant Present in the following documents:

• Main text
• biomedicines-11-01067.pdf

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: GC: 1226A>T; D409V

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

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Lysosomal Pathogenesis of Parkinson's Disease: Insights From LRRK2 and GBA1 Rodent Models.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Volta, Mattia M

Publication Date: 2022-09-09

Variant appearance in text: GC: D409V

PubMed Link: 36085537

Variant Present in the following documents:

• 13311_2022_Article_1290.pdf

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Clinical Manifestations and Molecular Backgrounds of Parkinson's Disease Regarding Genes Identified From Familial and Population Studies.

Frontiers In Neurology

Nishioka, Kenya K; Imai, Yuzuru Y; Yoshino, Hiroyo H; Li, Yuanzhe Y; Funayama, Manabu M; Hattori, Nobutaka N

Publication Date: 2022

Variant appearance in text: GC: D409V

PubMed Link: 35720097

Variant Present in the following documents:

• fneur-13-764917.pdf

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Adeno-Associated Viruses for Modeling Neurological Diseases in Animals: Achievements and Prospects.

Biomedicines

Lunev, Evgenii E; Karan, Anna A; Egorova, Tatiana T; Bardina, Maryana M

Publication Date: 2022-05-15

Variant appearance in text: GC: D409V

PubMed Link: 35625877

Variant Present in the following documents:

• Main text
• biomedicines-10-01140.pdf

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C-X-C Motif Chemokine Ligand 9 and Its CXCR3 Receptor Are the Salt and Pepper for T Cells Trafficking in a Mouse Model of Gaucher Disease.

International Journal Of Molecular Sciences

Magnusen, Albert Frank AF; Rani, Reena R; McKay, Mary Ashley MA; Hatton, Shelby Loraine SL; Nyamajenjere, Tsitsi Carol TC; Magnusen, Daniel Nii Aryee DNA; Köhl, Jörg J; Grabowski, Gregory Alex GA; Pandey, Manoj Kumar MK

Publication Date: 2021-11-24

Variant appearance in text: GC: D409V

PubMed Link: 34884512

Variant Present in the following documents:

• Main text

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Genetic Defects and Pro-inflammatory Cytokines in Parkinson's Disease.

Frontiers In Neurology

Magnusen, Albert Frank AF; Hatton, Shelby Loraine SL; Rani, Reena R; Pandey, Manoj Kumar MK

Publication Date: 2021

Variant appearance in text: GC: D409V

PubMed Link: 34239490

Variant Present in the following documents:

• fneur-12-636139.pdf

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Gaucher disease: Basic and translational science needs for more complete therapy and management.

Molecular Genetics And Metabolism

Grabowski, Gregory A GA; Antommaria, Armand H M AHM; Kolodny, Edwin H EH; Mistry, Pramod K PK

Publication Date: 2021-02

Variant appearance in text: GC: D409V

PubMed Link: 33419694

Variant Present in the following documents:

• Main text

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LRRK2 and the Endolysosomal System in Parkinson's Disease.

Journal Of Parkinson'S Disease

Erb, Madalynn L ML; Moore, Darren J DJ

Publication Date: 2020

Variant appearance in text: GC: D409V

PubMed Link: 33044192

Variant Present in the following documents:

• jpd-10-jpd202138.pdf

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Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype.

Scientific Reports

Liou, Benjamin B; Zhang, Wujuan W; Fannin, Venette V; Quinn, Brian B; Ran, Huimin H; Xu, Kui K; Setchell, Kenneth D R KDR; Witte, David D; Grabowski, Gregory A GA; Sun, Ying Y

Publication Date: 2019-04-03

Variant appearance in text: GC: D409V

PubMed Link: 30944381

Variant Present in the following documents:

• Main text
• 41598_2019_Article_41914.pdf

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Systematic design and comparison of expanded carrier screening panels.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Beauchamp, Kyle A KA; Muzzey, Dale D; Wong, Kenny K KK; Hogan, Gregory J GJ; Karimi, Kambiz K; Candille, Sophie I SI; Mehta, Nikita N; Mar-Heyming, Rebecca R; Kaseniit, K Eerik KE; Kang, H Peter HP; Evans, Eric A EA; Goldberg, James D JD; Lazarin, Gabriel A GA; Haque, Imran S IS

Publication Date: 2018-01

Variant appearance in text: GC: D409V

PubMed Link: 28640244

Variant Present in the following documents:

• gim201769x1.pdf

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: GC: 1226A>T

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

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Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice.

Human Molecular Genetics

Liou, Benjamin B; Peng, Yanyan Y; Li, Ronghua R; Inskeep, Venette V; Zhang, Wujuan W; Quinn, Brian B; Dasgupta, Nupur N; Blackwood, Rachel R; Setchell, Kenneth D R KD; Fleming, Sheila S; Grabowski, Gregory A GA; Marshall, John J; Sun, Ying Y

Publication Date: 2016-12-01

Variant appearance in text: GC: D409V

PubMed Link: 27655403

Variant Present in the following documents:

• Main text

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Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease.

Plos One

Dai, Mei M; Liou, Benjamin B; Swope, Brittany B; Wang, Xiaohong X; Zhang, Wujuan W; Inskeep, Venette V; Grabowski, Gregory A GA; Sun, Ying Y; Pan, Dao D

Publication Date: 2016

Variant appearance in text: GC: D409V

PubMed Link: 27598339

Variant Present in the following documents:

• Main text
• pone.0162367.pdf

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Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics

Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C

Publication Date: 2014-05

Variant appearance in text: GC: D409V

PubMed Link: 24705254

Variant Present in the following documents:

• NIHMS4215-supplement-10.xlsx, sheet 2

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Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice.

Human Molecular Genetics

Xu, You-hai YH; Xu, Kui K; Sun, Ying Y; Liou, Benjamin B; Quinn, Brian B; Li, Rong-hua RH; Xue, Ling L; Zhang, Wujuan W; Setchell, Kenneth D R KD; Witte, David D; Grabowski, Gregory A GA

Publication Date: 2014-08-01

Variant appearance in text: GC: D409V

PubMed Link: 24599400

Variant Present in the following documents:

• Main text

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Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease.

Plos One

Sun, Ying Y; Zhang, Wujuan W; Xu, You-Hai YH; Quinn, Brian B; Dasgupta, Nupur N; Liou, Benjamin B; Setchell, Kenneth D R KD; Grabowski, Gregory A GA

Publication Date: 2013

Variant appearance in text: GC: D409V

PubMed Link: 23520473

Variant Present in the following documents:

• Main text
• pone.0057560.pdf

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Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease.

Molecular Genetics And Metabolism

Pandey, Manoj Kumar MK; Rani, Reena R; Zhang, Wujuan W; Setchell, Kenneth K; Grabowski, Gregory A GA

Publication Date: 2012-07

Variant appearance in text: GC: D409V

PubMed Link: 22595426

Variant Present in the following documents:

• Main text

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Imiglucerase in the treatment of Gaucher disease: a history and perspective.

Drug Design, Development And Therapy

Deegan, Patrick B PB; Cox, Timothy M TM

Publication Date: 2012

Variant appearance in text: GC: D409V

PubMed Link: 22563238

Variant Present in the following documents:

• dddt-6-081.pdf

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Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.

Molecular Genetics And Metabolism

Xu, Y H YH; Sun, Y Y; Ran, H H; Quinn, B B; Witte, D D; Grabowski, G A GA

Publication Date: 2011-04

Variant appearance in text: GC: D409V

PubMed Link: 21257328

Variant Present in the following documents:

• Main text

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Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model.

Plos One

Xu, You-Hai YH; Sun, Ying Y; Barnes, Sonya S; Grabowski, Gregory A GA

Publication Date: 2010-05-20

Variant appearance in text: GC: D409V

PubMed Link: 20505772

Variant Present in the following documents:

• Main text

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Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits.

Human Molecular Genetics

Sun, Ying Y; Liou, Benjamin B; Ran, Huimin H; Skelton, Matthew R MR; Williams, Michael T MT; Vorhees, Charles V CV; Kitatani, Kazuyuki K; Hannun, Yusuf A YA; Witte, David P DP; Xu, You-Hai YH; Grabowski, Gregory A GA

Publication Date: 2010-03-15

Variant appearance in text: GC: D409V

PubMed Link: 20047948

Variant Present in the following documents:

• Main text

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In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models.

Plos One

Sun, Ying Y; Liou, Benjamin B; Quinn, Brian B; Ran, Huimin H; Xu, You-Hai YH; Grabowski, Gregory A GA

Publication Date: 2009-10-07

Variant appearance in text: GC: D409V

PubMed Link: 19809509

Variant Present in the following documents:

• Main text
• pone.0007320.pdf

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Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.

Molecular Genetics And Metabolism

Xu, You-Hai YH; Reboulet, Rachel R; Quinn, Brian B; Huelsken, Joerg J; Witte, David D; Grabowski, Gregory A GA

Publication Date: 2008-06

Variant appearance in text: GC: D409V

PubMed Link: 18346921

Variant Present in the following documents:

• Main text

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