Ruxandra Bachmann‐Gagescu

Structure-function relationship of alpha-synuclein fibrillar polymorphs derived from distinct synucleinopathies

This study identifies structural and functional differences in alpha-synuclein fibrils from Parkinson's disease, Dementia with Lewy Bodies, and Multiple System Atrophy, linking these differences to disease-specific cellular responses and potential therapeutic targets.

CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines

This study generates two isogenic CEP290-mutated iPSC lines using CRISPR/Cas9 for disease modeling of ciliopathies.

Pythia: Non-random DNA repair allows predictable CRISPR/Cas9 integration and gene editing

The paper introduces Pythia, a tool that uses deep learning to predict CRISPR/Cas9 integration and editing outcomes by leveraging non-random DNA repair patterns.

BBSome-Mediated Clearance of Ubiquitinated IMPG2 Defines a Constitutive Ciliary Retrieval Pathway in Photoreceptors

This study identifies IMPG2m as a BBSome cargo in photoreceptors, revealing a constitutive ciliary retrieval pathway involving ubiquitinated membrane proteins.

Network-based framework for studying etiology and phenotype diversity in primary ciliopathies

This study uses network propagation to improve the clustering of primary ciliopathies and identify candidate genes, including a novel variant in CEP43.

Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system

The paper investigates the effects of Joubert Syndrome gene dysfunction in zebrafish, finding altered brain cilia, changes in neuron-related gene expression, and abnormal swimming behavior despite normal brain structure.

Astrogliosis And Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction

This study identifies astrogliosis and neuroinflammation as pathogenic mechanisms underlying scoliosis in zebrafish caused by cilia dysfunction.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition

This study shows that Bbs1 is essential for maintaining photoreceptor outer segment lipid composition and function, with loss leading to early visual deficits and retinal degeneration.

ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability

This study identifies a JBTS-associated protein module involving ARMC9 and TOGARAM1 that regulates ciliary stability and post-translational modifications.