A5093020387- Mitochondrial Function and Pathology
- ATP Synthase and ATPases Research
- Ubiquitin and proteasome pathways
- Peptidase Inhibition and Analysis
- Genetics and Neurodevelopmental Disorders
- Endoplasmic Reticulum Stress and Disease
- Genetic Neurodegenerative Diseases
- Metabolism and Genetic Disorders
University of Cologne
2024-2025
Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases
2024-2025
University Hospital Cologne
2024
Vita-Salute San Raffaele University
2024
Istituti di Ricovero e Cura a Carattere Scientifico
2024
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2024
IRCCS Ospedale San Raffaele
2023
Abstract Mitochondria are essential organelles and their functional state dictates cellular proteostasis. However, little is known about the molecular gatekeepers involved, especially in absence of external stress. Here we identify a role MFN2 quality control independent its function organellar shape remodeling. ablation alters proteome, marked for example by decreased levels import machinery accumulation kinase PINK1. Moreover, interacts with proteasome cytosolic chaperones, thereby...
Abstract AFG3L2 is a mitochondrial protease exerting protein quality control in the inner membrane. Heterozygous mutations cause spinocerebellar ataxia type 28 (SCA28) or dominant optic atrophy 12 (DOA12), while biallelic result rare and severe spastic 5 (SPAX5). The clinical spectrum of SPAX5 includes childhood-onset cerebellar ataxia, spasticity, dystonia myoclonic epilepsy. We previously reported that absence mutation leads to accumulation mitochondria-encoded proteins, causing...
Abstract MECP2 deficiency causes a broad spectrum of neuropsychiatric disorders that can affect both genders. Rett syndrome is the most common and characterized by an apparently normal growth period followed regression phase in which patients lose their previously acquired skills. After this dramatic period, various symptoms progressively appear, including severe intellectual disability, epilepsy, apraxia, breathing abnormalities motor deterioration. encodes for epigenetic transcription...