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Publications by Manuela Pendziwiat

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American Journal of Human Genetics

English

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics

English

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

American Journal of Human Genetics

English

Biallelic VARS Variants Cause Developmental Encephalopathy With Microcephaly That Is Recapitulated in Vars Knockout Zebrafish

Nature Communications

Molecular Biology

English

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Molecular Control of Endothelial Cell Behaviour During Blood Vessel Morphogenesis

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Multidimensional Proteomics for Cell Biology

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DNA Methylation Pathways and Their Crosstalk With Histone Methylation

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Transcriptional Integration of Metabolism by the Nuclear Sterol-Activated Receptors LXR and FXR

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Tail-Anchored Membrane Protein Insertion Into the Endoplasmic Reticulum

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Dynamin, a Membrane-Remodelling GTPase

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Regulating the Regulator: Post-Translational Modification of RAS

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Trithorax Group Proteins: Switching Genes on and Keeping Them Active

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