Birgitt Schüle

Optical genome mapping identifies source-associated structural variant differences across early-passage human iPSCs

This study uses optical genome mapping to compare structural variant profiles of iPSCs derived from different somatic cell sources, finding differences in SV burden and types between PBMC- and fibroblast-derived clones.

APOE4 Drives Uniquely Dysfunctional Human Microglial States in Alzheimer's Disease

This study identifies APOE4/4-driven dysfunctional microglial states in Alzheimer's disease through multiomic analysis, revealing shifts toward terminal states with metabolic disruption and inflammatory signaling.

Prevention of Transgene Silencing During Human PluripotentStem Cell Differentiation

The paper identifies strategies to prevent transgene silencing during human pluripotent stem cell differentiation and introduces a robust vector construct.

Functional Connectivity Alterations in Spinocerebellar Ataxia Type 10: Insights from Gray Matter Atrophy

This study examines functional connectivity changes in SCA10 patients and links them to gray matter atrophy and clinical scores.

Optical Genome Mapping of the human reference iPSC line KOLF2.1J reveals new smaller structural variants in neurodevelopmental genes

The paper uses optical genome mapping to identify new smaller structural variants in the KOLF2.1J iPSC line, affecting genes relevant to neurodevelopment.

Histone deacetylase inhibition expands cellular proteostasis repertoires to enhance neuronal stress resilience

This study shows that inhibiting histone deacetylases enhances neuronal resilience to stress by inducing a permissive transcriptional state and activating proteostasis pathways.

Identification and Validation of N-Acetylputrescine in Combination With Non-Canonical Clinical Features As a Parkinsons Disease Biomarker Panel

The paper identifies and validates a biomarker panel combining N-acetylputrescine with clinical features for Parkinson's disease diagnosis, showing high diagnostic accuracy.

Robust nuclease-dead S. aureus dCas9-mediated alpha-synuclein knockdown in substantia nigra in a humanized mouse model of Parkinson's disease

This paper demonstrates that sadCas9-mediated CRISPRi reduces alpha-synuclein expression in a humanized mouse model of Parkinson's disease, showing long-term downregulation and attenuated immune response.

Nuclease-dead S. aureus Cas9 downregulates alpha-synuclein and reduces mtDNA damage and oxidative stress levels in patient-derived stem cell model of Parkinson's disease

This study uses CRISPRi to downregulate alpha-synuclein in a Parkinson's disease patient-derived model, reducing oxidative stress and mtDNA damage.

A reference induced pluripotent stem cell line for large-scale collaborative studies

The paper identifies and characterizes a reference iPSC line, KOLF2.1J, for standardized use in collaborative studies across multiple differentiation protocols and assays.

Multiplex imaging of human induced pluripotent stem cell-derived neurons with CO-Detection by indEXing (CODEX) technology

This paper applies CODEX multiplex imaging to human iPSC-derived neurons to enable high-resolution biomarker analysis.

Genome-wide association studies of LRRK2 modifiers of Parkinson's disease

This study identifies genetic modifiers of LRRK2 mutations in Parkinson's disease, finding a significant variant in CORO1C and a polygenic risk score effect on penetrance.

LRRK2 modifies α-syn pathology and spread in mouse models and human neurons

This study shows that LRRK2 modifies α-syn aggregation and spread in both mouse and human models, suggesting potential therapeutic targets for Parkinson's disease.