Jean‐François Trempe

Doublecortin mutation disrupts lattice-dependent proximity to reveal cytoskeletal networks in developing neurons

The paper investigates DCX's role in cytoskeletal networks during neuronal development by analyzing proteomic changes in a disease-associated mutation.

GBAviewer: a structural database of GBA1 variants in Parkinson's disease

GBAviewer maps GBA1 variants onto GCase structures to aid in understanding their structural impact on Parkinson's disease.

Evolutionary analysis of PINK1 reveals key roles of the N- and C-terminal extensions and TOM20 in folding its kinase domain

This study identifies evolutionary differences in PINK1 orthologues that affect stability and activity, revealing the role of NTE, CTE, and TOM20 in kinase function and pathogenic variants.

Mapping Parkinson's Disease Progression through Deep Plasma Proteomics and Functional Genomics

This study identifies plasma protein biomarkers and mechanistic pathways in Parkinson's disease using deep proteomics and functional genomics.

Lactate-fueled hydride transfer metabolon drives breast cancer metastasis

This study identifies a lactate-fueled metabolon involving LDHB and HTC that promotes breast cancer metastasis by reprogramming NAD metabolism.

N-terminal acetylation reduces α-synuclein pathology in models of Parkinson's disease

This study shows that N-terminal acetylation of α-synuclein reduces aggregation, uptake, seeding, and toxicity in Parkinson's disease models.

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders

This study identifies digenic inheritance of SPG7 and AFG3L2 mutations as a cause of motor neuron and cerebellar disorders in 17 patients.

α-Synuclein purification significantly impacts seed amplification assay performance and consistency

This study compares four methods of purifying α-synuclein for seed amplification assays, finding that osmotic shock-purified monomer has the lowest aggregation propensity and best inter-batch reproducibility.

Substrate recognition by the human mitochondrial processing peptidase and its processing of PINK1

This study investigates how the human mitochondrial processing peptidase (MPP) recognizes and processes the N-terminal targeting sequence of PINK1, revealing its binding mechanism and functional implications.

TDP-43 pathology triggers SRRM4-dependent cryptic splicing of G3BP1 in ALS/FTD

The paper shows that TDP-43 pathology causes a cryptic exon in G3BP1 to be included in neurons, leading to a protein that disrupts stress granule dynamics in ALS/FTD.

Conformational flexibility of tubulin dimers regulates the transitions of microtubule dynamic instability

This study compares the conformational flexibility of Drosophila and bovine tubulins and links it to differences in microtubule dynamic instability.

Unveiling the Molecular Mechanisms of the Type-IX Secretion System's Response Regulator: Structural and Functional Insights

This study characterizes PorX, a response regulator in the Type-IX secretion system, revealing its unique enzymatic activity and zinc-dependent dimerization, with implications for virulence factor secretion in bacterial pathogens.

Identification of novel variants, genes and pathways potentially linked to Parkinson's disease using machine learning

The paper uses machine learning to identify candidate genes, variants, and pathways potentially linked to Parkinson's disease from GWAS loci and genomic data.

MTSviewer: a database to visualize mitochondrial targeting sequences, cleavage sites, and mutations on protein structures

MTSviewer integrates tools to visualize mitochondrial targeting sequences, cleavage sites, mutations, and structural data for human and yeast mitochondrial proteomes.

An Approach to Measuring Protein Turnover in Human Induced Pluripotent Stem Cell Organoids by Mass Spectrometry

The paper develops a mass spectrometry-based method to measure protein turnover in human induced pluripotent stem cell organoids, comparing results to primary cell cultures and in vivo models.

Evidence for non-Mendelian inheritance in spastic paraplegia 7

The paper investigates the inheritance pattern of SPG7 variants in hereditary spastic paraplegia, finding evidence of non-Mendelian inheritance including heterozygous variants and digenic/epistatic interactions.

TNF receptor associated factor 6 interacts with ALS-linked misfolded superoxide dismutase 1 and promotes aggregation

The paper identifies TRAF6 as an interactor of misfolded SOD1 in ALS, showing it promotes aggregation through ubiquitination.

Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson’s disease

The paper identifies rare variants in PRKN and LRRK2 associated with leprosy type-1 reactions and finds overlap with Parkinson’s disease pathogenic mechanisms.

The yeast proteases Ddi1 and Wss1 are both involved in the DNA replication stress response.

This study shows that yeast proteases Ddi1 and Wss1 are both involved in the DNA replication stress response, with Ddi1's helical domain playing a key role.

The Landscape of Parkin Variants Reveals Pathogenic Mechanisms and Therapeutic Targets in Parkinson’s Disease

The paper classifies Parkin variants into functional groups based on their impact on mitophagy and stability, revealing potential therapeutic targets for Parkinson’s disease.