John D. Hulleman

An Inducible Model of RPE-Associated Hydroxyapatite Mineralization with Relevance to Drusen Formation in Age-Related Macular Degeneration

This paper develops an inducible ARPE-19 cell model of hydroxyapatite mineralization, mimicking AMD drusen features and revealing transcriptional changes and mineral deposition inhibition.

ClinGen Glaucoma Variant Curation Expert Panel recommendations enhance classification of myocilin variants

The paper curates 271 MYOC variants in open-angle glaucoma patients using updated ClinGen guidelines, increasing definitive classifications and highlighting the need for functional evidence.

Genetic removal of Nlrp3 protects against sporadic and R345W Efemp1-induced basal laminar deposit formation

This study shows that removing Nlrp3 reduces basal laminar deposits in both a genetic mouse model and wild-type mice, suggesting a role for Nlrp3 in AMD pathology.

A spectrum of clinically-identified cysteine mutations in fibulin-3 (EFEMP1) highlight its disulfide bonding complexity and potential to induce stress response activation

The paper examines how cysteine mutations in FBLN3 affect its structure, secretion, and stress response, revealing varied biochemical outcomes and potential disease implications.

Select azo compounds post-translationally modulate HTRA1 abundance and activity potentially through interactions at the trimer interface

This paper identifies specific azo compounds that enhance HTRA1 abundance but have varying effects on its activity, suggesting potential therapeutic applications for diseases like AMD.

Monitoring mutant myocilin secretion and localization in trabecular meshwork cell cultures using a protein complementation-based luminescence assay

This paper introduces a luminescence assay to detect myocilin secretion defects in trabecular meshwork cells and confirms secretion issues for several mutant variants.

GSK3 inhibition reduces ECM production and prevents age-related macular degeneration-like pathology

The paper shows that GSK3 inhibition reduces fibulin-3 production and prevents AMD-like pathology in a mouse model of ML/DHRD.

Important anatomical, age-related, and species considerations regarding ocular fibulin-3 (EFEMP1) analysis

The paper examines F3 expression and localization across species and age in ocular tissues, finding species-dependent and region-specific patterns, with age-related changes in F3 and ECM enzyme dynamics.

Dominant nonsense mutations in efemp1 alter vertebral and craniofacial characteristics in adult zebrafish

SPECIFICATIONS OF THE ACMG/AMP VARIANT CURATION GUIDELINES FOR MYOCILIN: RECOMMENDATIONS FROM THE CLINGEN GLAUCOMA EXPERT PANEL

The paper adapts ACMG/AMP variant curation guidelines for the myocilin gene, leading to changes in variant classification for 38% of tested variants.

Two C-terminal sequence variations determine differential neurotoxicity between human and mouse α-synuclein

The paper compares neurotoxicity of human A53T and mouse α-synuclein variants, finding mouse aSyn is less toxic due to C-terminal substitutions reducing membrane-induced aggregation and vesicle permeabilization.