Institute of Human Genetics

Generation of a homozygous and a heterozygous SNCA gene knockout human-induced pluripotent stem cell line by CRISPR/Cas9 mediated allele-specific tuning of SNCA expression (2022) Schneider Y, Turan S, Koller A, Krumbiegel M, Farrell M, Plotz S, Winkler J, Xiang W Journal article Druggable transcriptomic pathways revealed in Parkinson’s patient-derived midbrain neurons (2022) van den Hurk M, Lau S, Marchetto MC, Mertens J, Stern S, Corti O, Brice A, et al. Journal article Cystathionine β-synthase as novel endogenous regulator of lymphangiogenesis via modulating VEGF receptor 2 and 3 (2022) Hatami N, Büttner C, Bock F, Simfors S, Musial G, Reis A, Cursiefen C, Clahsen T Journal article Reduced synaptic activity and dysregulated extracellular matrix pathways in midbrain neurons from Parkinson’s disease patients (2022) Stern S, Lau S, Manole A, Rosh I, Percia MM, Ben Ezer R, Shokhirev MN, et al. Journal article Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia. (2022) Winner B, Marterstock D, Kopp C, Dörfler A, Regensburger M, Krumm L, Schmidt M, et al. Journal article In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 (2022) Morison LD, Meffert E, Stampfer M, Steiner-Wilke I, Vollmer B, Schulze K, Briggs T, et al. Journal article Impact of Siponimod on Enteric and Central Nervous System Pathology in Late-Stage Experimental Autoimmune Encephalomyelitis (2022) Weier A, Enders M, Kirchner P, Ekici AB, Bigaud M, Kapitza C, Wörl J, Kuerten S Journal article Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel (2022) Burdon KP, Graham P, Hadler J, Hulleman JD, Pasutto F, Boese EA, Craig JE, et al. Journal article The Gut–Immune–Brain Axis: An Important Route for Neuropsychiatric Morbidity in Inflammatory Bowel Disease (2022) Masanetz RK, Winkler J, Winner B, Günther C, Süß P Journal article, Review article Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study (2022) Popp B, Ekici AB, Knaup K, Schneider K, Uebe S, Park J, Bafna V, et al. Journal article