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Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus

BMC genomics, 2023-08, Vol.24 (1), p.1-460, Article 460

2023

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In vitro and in vivo translational models for rare liver diseases

Biochimica et biophysica acta. Molecular basis of disease, 2019-05, Vol.1865 (5), p.1003-1018

2019

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A sensitive aβ oligomer assay discriminates Alzheimer's and aged control cerebrospinal fluid

The Journal of neuroscience, 2014-02, Vol.34 (8), p.2884-2897

2014

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Benserazide racemate and enantiomers induce fetal globin gene expression in vivo: Studies to guide clinical development for beta thalassemia and sickle cell disease

Blood cells, molecules, & diseases, 2021-07, Vol.89, p.102561-102561, Article 102561

2021

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Discovery of pyrrolidine-based β-secretase inhibitors: Lead advancement through conformational design for maintenance of ligand binding efficiency

Bioorganic & medicinal chemistry letters, 2012-01, Vol.22 (1), p.240-244

2012

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Identification of a small molecule β-secretase inhibitor that binds without catalytic aspartate engagement

Bioorganic & medicinal chemistry letters, 2009, Vol.19 (1), p.17-20

2009

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A conformational constraint improves a β-secretase inhibitor but for an unexpected reason

Bioorganic & medicinal chemistry letters, 2009-09, Vol.19 (17), p.4993-4995

2009

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Exploring the effect of combined β- & γ-secretase inhibitor treatment on βAPP processing in a transfected SHSY5Y cell line

Alzheimer's & dementia, 2009-07, Vol.5 (4), p.P429-P429

2009

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P3‐292: Exploring the effect of combined β‐ & γ‐secretase inhibitor treatment on βAPP processing in a transfected SHSY5Y cell line

Alzheimer's & dementia, 2009-07, Vol.5 (4S_Part_14), p.P429-P429

2009

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Discovery of pyrrolidine-based I2-secretase inhibitors: Lead advancement through conformational design for maintenance of ligand binding efficiency

Bioorganic & medicinal chemistry letters, 2012-01, Vol.22 (1), p.240-244

2012

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APH1, PEN2, and Nicastrin increase Aβ levels and γ-secretase activity

Biochemical and biophysical research communications, 2003-06, Vol.305 (3), p.502-509

2003

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Identification of a small molecule [beta]-secretase inhibitor that binds without catalytic aspartate engagement

Bioorganic & medicinal chemistry letters, 2010-09, Vol.19 ((1) ; 01, 2009)

2010

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A conformational constraint improves a b-secretase inhibitor but for an unexpected reason

Bioorganic & medicinal chemistry letters, 2009-09, Vol.19 (17), p.4993-4995

2009

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Methylene blue blocks cGMP production and disrupts directed migration of microglia to nerve lesions in the leech CNS

Journal of neurobiology, 2003-11, Vol.57 (2), p.183-192

2003

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Addendum “APH1, PEN2, and Nicastrin increase Aβ levels and γ-secretase activity” [Biochem. Biophys. Res. Commun. 305 (2003) 502–509]

Biochemical and biophysical research communications, 2003-08, Vol.307 (3), p.756-756

2003

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APH1, PEN2, and Nicastrin increase Abeta levels and gamma-secretase activity

Biochemical and biophysical research communications, 2003-06, Vol.305 (3), p.502

2003

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The Benefits Trial of PB-04 to Evaluate Safety, PK, and Preliminary Efficacy in Inducing Fetal Globin Expression in Beta Thalassemia Intermedia and Sickle Cell Disease

Blood, 2021-11, Vol.138 (Supplement 1), p.4159-4159

2021

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Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus

In vitro and in vivo translational models for rare liver diseases

A sensitive aβ oligomer assay discriminates Alzheimer's and aged control cerebrospinal fluid

Benserazide racemate and enantiomers induce fetal globin gene expression in vivo: Studies to guide clinical development for beta thalassemia and sickle cell disease

Discovery of pyrrolidine-based β-secretase inhibitors: Lead advancement through conformational design for maintenance of ligand binding efficiency

Identification of a small molecule β-secretase inhibitor that binds without catalytic aspartate engagement

A conformational constraint improves a β-secretase inhibitor but for an unexpected reason

Exploring the effect of combined β- & γ-secretase inhibitor treatment on βAPP processing in a transfected SHSY5Y cell line

P3‐292: Exploring the effect of combined β‐ & γ‐secretase inhibitor treatment on βAPP processing in a transfected SHSY5Y cell line

Discovery of pyrrolidine-based I2-secretase inhibitors: Lead advancement through conformational design for maintenance of ligand binding efficiency

APH1, PEN2, and Nicastrin increase Aβ levels and γ-secretase activity

Identification of a small molecule [beta]-secretase inhibitor that binds without catalytic aspartate engagement

A conformational constraint improves a b-secretase inhibitor but for an unexpected reason

Methylene blue blocks cGMP production and disrupts directed migration of microglia to nerve lesions in the leech CNS

Addendum “APH1, PEN2, and Nicastrin increase Aβ levels and γ-secretase activity” [Biochem. Biophys. Res. Commun. 305 (2003) 502–509]

APH1, PEN2, and Nicastrin increase Abeta levels and gamma-secretase activity

The Benefits Trial of PB-04 to Evaluate Safety, PK, and Preliminary Efficacy in Inducing Fetal Globin Expression in Beta Thalassemia Intermedia and Sickle Cell Disease

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