Maze Therapeutics

publications

Publications

2025

NOVEMBER 2025 I MAZE THERAPEUTICS
Safety, Tolerability, Pharmacokinetics, and Pharmacodynamic Proof-of-Mechanism of MZE782, a Specific Inhibitor of SLC6A19 for the Treatment of CKD: Phase 1 Study in Healthy Adults
American Society of Nephrology Kidney Week | Keith Boundy et al.
NOVEMBER 2025 I MAZE THERAPEUTICS
Small Molecule Inhibition of SLC6A19 for the Treatment of CKD
American Society of Nephrology Kidney Week | Yannan Xi et al.
NOVEMBER 2025 I MAZE THERAPEUTICS
Small Molecule Inhibitors of APOL1 Reverse Dysfunctional Signaling Mediated by APOL1 Risk Variants in Immortalized Human Podocytes
American Society of Nephrology Kidney Week | Sheela Crasta et al.
NOVEMBER 2025 I MAZE THERAPEUTICS
Multicenter, Observational, Cross-Sectional Study to Estimate the Frequencies of APOL1 Genetic Variants in Adult Black and African American Patients with Proteinuric Kidney Disease
American Society of Nephrology Kidney Week I Susan L. Limb et al.
NOVEMBER 2025 I MAZE THERAPEUTICS
APOL1 High Risk Variants Associated with CKD Progression in People with Diabetes
American Society of Nephrology Kidney Week | Robert R. Graham et al.
OCTOBER 2025 I MAZE THERAPEUTICS
Variant functionalization data strengthen the genetic association of SLC6A19 loss-of-function with improved outcomes in chronic kidney disease
American Society of Human Genetics Annual Meeting 2025 I De Jong et al.
JANUARY 2025 I MAZE THERAPEUTICS
Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits
Nature Genetics I Scherer et al.

2024

NOVEMBER 2024 I MAZE THERAPEUTICS
First-in-Human Evaluation of Safety, Pharmacokinetics and Muscle Glycogen Lowering of a Novel Glycogen Synthase 1 Inhibitor for the Treatment of Pompe Disease
Clinical Pharmacology & Therapeutics | Ullman et al.
NOVEMBER 2024 I MAZE THERAPEUTICS
Functional characterization of Hartnup’s disease missense variants in SLC6A19 shows loss of function by disparate mechanisms
American Society of Human Genetics Annual Meeting 2024 | Sallee, De Jong et al.
OCTOBER 2024 I MAZE THERAPEUTICS
Genetic ablation of SLC6A19 is protective against renal damage in mouse models of chronic renal disease.
American Society of Nephrology Kidney Week 2024 | Mozaffari et al.
OCTOBER 2024 I MAZE THERAPEUTICS
SLC6A19 (BOAT1) allelic series: loss of function is associated with improved kidney function.
American Society of Nephrology Kidney Week 2024 | Mozaffari et al.
OCTOBER 2024 I MAZE THERAPEUTICS
Safety, Tolerability, and Pharmacokinetics of MZE829, an APOL1 Inhibitor, in Healthy Adult Volunteers
American Society of Nephrology Kidney Week 2024 | Limb et al.
SEPTEMBER 2024 I MAZE THERAPEUTICS
Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders
Science Translational Medicine | Ullman et al.

2023

NOVEMBER 2023 | MAZE THERAPEUTICS
Small molecule inhibition of APOL1 reverses albuminuria in a chronic mouse model of APOL1-mediated kidney disease (AMKD) American Society of Nephrology Kidney Week 2023
American Society of Nephrology Kidney Week 2023
OCTOBER 2023 | MAZE THERAPEUTICS Million Veteran Program and Vanderbilt University Medical Center
Genetic Inhibition of APOL1 Pore-Forming Function Prevents APOL1-Mediated Kidney Disease
Journal of the American Society of Nephrology | Hung et al.
MARCH 2023 | MAZE THERAPEUTICS
Muscle glycogen reduction in healthy adults treated with MZE001, an oral inhibitor of GYS1 and potential substrate reduction therapy for Pompe Disease
Muscular Dystrophy Association (MDA) Clinical and Scientific Conference | Ullman, et al.
FEBRUARY 2023 | MAZE THERAPEUTICS
Small molecule inhibition of glycogen synthase I restores autophagolysosomal and metabolic pathway dysfunction in a mouse model of Pompe disease
WORLDSymposium 2023 | Xi et al.
FEBRUARY 2023 | MAZE THERAPEUTICS
Quantification of peripheral blood mononuclear cell (PBMC) glycogen as a novel biomarker for therapeutic intervention in Pompe Disease
WORLDSymposium 2023 | Satterfield et al.
FEBRUARY 2023 | MAZE THERAPEUTICS
Results from a first in human study of MZE001, an orally bioavailable inhibitor of glycogen synthase 1 and potential substrate reduction therapy for Pompe Disease
WORLDSymposium 2023 | Ullman et al.

2022

NOVEMBER 2022 | MAZE THERAPEUTICS
MZ-301 Is a Small Molecule Inhibitor of APOL1 Pore Function That Attenuates Albuminuria in a Mouse Model of APOL1-Mediated Kidney Disease
American Society of Nephrology 2022 Kidney Week | Assimon et al.
NOVEMBER 2022 | MAZE THERAPEUTICS
Genetic Inhibition of APOL1 Pore Forming Function Prevents APOL1 Kidney Disease
American Society of Nephrology 2022 Kidney Week | Hung et al.
JULY 2022 | MAZE THERAPEUTICS
The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex
Cell Reports 2022 I Fastman et al
FEB 2022 | NATURE
TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A
Nature | Ma, X.R., Prudencio, M., Koike, Y. et al.
FEB 2022 | MAZE THERAPEUTICS
Substrate reduction therapy for Pompe Disease: Small molecule inhibition of Glycogen Synthase 1 in preclinical models
WORLDSymposium 2022 | Ullman
FEB 2022 | MAZE THERAPEUTICS
In vitro characterization of MZE001, an orally active GYS1 inhibitor to treat Pompe Disease
WORLDSymposium 2022 | Choy
FEB 2022 | MAZE THERAPEUTICS
Pharmacology of small molecule inhibitors of GYS1 in canines and mouse model of Pompe Disease
WORLDSymposium 2022 | Xi et al.
FEB 2022 | MAZE THERAPEUTICS
Genetic reduction of muscle glycogen is well tolerated in UK biobank participants
WORLDSymposium 2022 | Homburger et al.

2021

SEPT 2021 | EXTERNAL EXPERTS
From variant to function in human disease genetics
Science | Lappalainen, Tuuli, and Daniel G. MacArthur
JUNE 2021 | EXTERNAL EXPERTS
APOL1 at 10 years: progress and next steps
Kidney international | Freedman, Barry I., et al.
APR 2021 | INTERNAL EXPERT
Identifying therapeutic drug targets using bidirectional effect genes
Nature Communications | Estrada et al.

2020 and prior

OCT 2020 | MAZE THERAPEUTICS
A framework to integrate genome-wide CRISPR functional genomics screens with human genetics to nominate novel therapeutic targets in ALS
American Society of Human Genetics 2020 Virtual Meeting | Cummings et al.
JAN 2020| MAZE FOUNDER
A brief history of human disease genetics
PLOS Genetics | Claussnitzer et al
DEC 2019 | EXTERNAL EXPERTS
Are drug targets with genetic support twice as likely to be approved
PLOS Genetics | King et al.
JUL 2019 | EXTERNAL EXPERTS
Priority index for human genetics and drug discovery
Nature Genetics | Plenge et al.
AUG 2018 | MAZE FOUNDER
Mapping the genetic landscape of human cells
Cell | Horlbeck et al.
AUG 2016 | MAZE FOUNDER
Leveraging human genetics to guide drug target discovery
Trends in Cardiovascular Medicine | Stitziel et al.
DECEMBER 2013 | EXTERNAL EXPERTS
APOL1 risk variants, race, and progression of chronic renal disease.
New England Journal of Medicine | Parsa, Afshin, et al.
JULY 2013 | EXTERNAL EXPERTS
Validating therapeutic targets through human genetics
Nature Reviews Drug Discovery | Robert M. Plenge, Edward M. Scolnick, David Altshuler

want to get a hold of a representative?

Amy Bachrodt
Maze Therapeutics
abachrodt@mazetx.com

media inquires

Katie Engleman
1AB
katie@1abmedia.com

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