Matthew James Farrer

The paper investigates how LRRK2 activity affects dopamine release in mice, showing age- and sex-dependent changes and rapid reversal with inhibition in certain groups.

This study investigates the effects of Vps35 p.D620N mutation on microglial function, showing increased LRRK2 kinase activity, chronic inflammation, and altered immune responses in mice.

This study shows that disrupting Lrrk2 function in both directions leads to T cell dysregulation and exhaustion-like immune responses in mice.

This study conducts a genome-wide association study of copy number variations in Parkinson's disease, identifying a significant PRKN deletion but limited replication in an independent dataset.

This study identifies Rab32 as a mediator linking peripheral inflammation to Lrrk2 kinase activity in microglia, with Tfe3 regulating Rab32 expression and Lrrk2 activation.

The paper identifies splicing dysregulation in Parkinson's disease linked to TDP-43 loss of function and shows its association with genetic mutations and cellular models.

This study compares long-read sequencing and optical genome mapping in detecting structural variants in Parkinson's disease, finding OGM better detects large variants while ONT provides high-resolution refinement.

This study shows midbrain dopamine neurons modulate splenic immunity via a brain-to-body circuit involving the DVC and celiac ganglion, reducing spleen weight and naive CD4+ T-cell populations.

This study characterizes Dnajc12 knockout mice, showing reduced dopamine and serotonin levels, altered behavior, and potential therapeutic implications for biogenic amine disorders.

This study identifies six novel genetic loci associated with Parkinson's disease mortality and motor progression using genome-wide survival analysis.

This paper reviews flow cytometry methods for quantifying immune cells in wild-type mouse brains, finding significant variability in protocols and results.

The paper shows that inhibiting LRRK2 kinase activity rescues dopamine deficits in VPS35 p.D620N knock-in mice by normalizing DAT function and reducing hyperlocomotion.

This study identifies a new susceptibility locus, PLA2G4C, for Multiple System Atrophy through a genome-wide association study and functional analysis of a risk variant.

The paper evaluates Oxford Nanopore sequencing for detecting GBA variants in Parkinson's disease patients and controls, finding high true-positive rates and identifying two pathogenic variants.

This study examines how a mitochondrial polygenic score interacts with environmental factors to influence age at onset in LRRK2-PD and iPD, finding ethnic-specific effects and gene-environment interactions.

The paper identifies mitochondrial DNA heteroplasmy as a marker distinguishing disease manifestation in PINK1/PRKN mutation carriers.

This study investigates the effects of the VPS35 D620N mutation on neuronal function, finding increased GluA1 surface expression and altered glutamate transmission, with LRRK2 inhibition affecting GluA1 levels.

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.

The paper examines DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease, finding no significant effect of DNM3 on age at onset but a possible interaction between LRRK2 and VAMP4.

This study evaluates the diagnostic yield and treatment impact of targeted whole-exome sequencing in early-onset epilepsy, finding a 34% diagnostic rate with faster diagnosis and cost savings when used early.

The paper refutes the claim that TMEM230 c.422G>T is a causative mutation for Parkinson disease by showing it is not present in affected family members.