Giampietro Schiavo

Brain-derived neurotrophic factor amplifies neuron-intrinsic programs to enhance axonal regeneration in human motor neurons

This study shows BDNF enhances axonal regeneration in human motor neurons by regulating RNA metabolism and cytoskeletal dynamics through kinase pathways.

Impaired BDNF-TrkB trafficking and signalling in Down syndrome basal forebrain neurons

This study identifies impaired BDNF-TrkB trafficking and signalling in Down syndrome basal forebrain neurons, linking Rab5 hyperactivation to endosomal dysfunction and ERK1/2 signalling deficits.

TBK1 activity regulates the directionality of axonal transport of signalling endosomes

The paper shows TBK1 phosphorylates Rab7 to regulate unidirectional retrograde transport of signalling endosomes in motor neurons, linking TBK1 dysfunction to ALS-related transport impairments.

Metabolic alterations in the absence of a detectable neuromuscular phenotype in novel genomically humanised SOD1A4V mice.

This study generates and analyzes a novel genomically humanised SOD1A4V mouse model, revealing metabolic dysfunction through multi-omic analyses and identifying it as a potential pre-symptomatic ALS model.

CNTF specifically slows down the axonal transport of signalling endosomes

This study shows that CNTF specifically slows axonal transport of signalling endosomes in both fast and slow motor neurons, highlighting selectivity in NTF regulation of transport.

Characterisation of LAMP1- and LAMP2A-positive organelles in neurons

The paper characterises LAMP1- and LAMP2A-positive organelles in neurons, finding they have distinct transport dynamics and protein compositions.

Innervation and cargo-specific axonal transport impairments in FUS-ALS mice with gain and loss of function

This study identifies sex-dependent motor neuron dysfunction and cargo-specific axonal transport impairments in FUS-ALS mice, linking endosomal transport defects to denervation in ALS.

Processivity and BDNF-dependent modulation of signalling endosome axonal transport are impaired in aged mice

The paper investigates how aging affects signaling endosome transport in motor axons and finds that processivity is impaired, which is not rescued by BDNF treatment due to reduced TrkB receptor expression.

The node of Ranvier influences the in vivo axonal transport of mitochondria and signalling endosomes

The paper investigates axonal transport dynamics of signalling endosomes and mitochondria at the Node of Ranvier in vivo, finding reduced velocity and increased pausing during transit through the NoR.

Loss of TDP-43 induces synaptic dysfunction that is rescued by UNC13A splice-switching ASOs

This study shows that loss of TDP-43 causes synaptic dysfunction through a cryptic exon in UNC13A, which is rescued by antisense oligonucleotides.

Age-specific and compartment-dependent changes in mitochondrial homeostasis and cytoplasmic viscosity in mouse peripheral neurons

This study investigates age-related changes in mitochondrial function and cytoplasmic viscosity in mouse peripheral neurons, finding compartment-specific effects on mitochondrial trafficking and homeostasis.

Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy

Kidins220 sets the threshold for survival of neural stem cells and progenitors to sustain adult neurogenesis

This study identifies Kidins220 as critical for NSC survival and adult neurogenesis by regulating AKT and GSK3 activity in response to growth factors.

Botulinum neurotoxin A modulates the axonal release of pathological tau in hippocampal neurons

This study investigates how botulinum neurotoxin A affects the release of mutant tau in hippocampal neurons, showing it blocks mutant tau release by modulating SNAP25.

Rab10 regulates the sorting of internalised TrkB to retrograde axonal transport

This study identifies Rab10 as essential for TrkB sorting and retrograde BDNF signaling in neurons, linking Rab10 to neuroprotection and neurodegeneration.

BDNF-dependent modulation of axonal transport is selectively impaired in ALS

This study shows that BDNF-dependent axonal transport is selectively impaired in fast motor neurons of ALS mice, contributing to disease pathology.

Bimodal regulation of axonal transport by the GDNF-RET signalling axis in healthy and diseased motor neurons

This study shows that blocking the GDNF-RET signalling axis rescues axonal transport deficits in ALS models, suggesting it as a potential therapeutic target.

FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation

This study shows that FUS-ALS mutants form cytoplasmic condensates that alter FMRP phase separation, leading to translation inhibition in motor neurons.

NMJ-Analyser: high-throughput morphological screening of neuromuscular junctions identifies subtle changes in mouse neuromuscular disease models

NMJ-Analyser quantifies neuromuscular junction morphology and innervation status in mouse models, identifying structural changes in ALS and peripheral neuropathy with high accuracy.

Common ALS/FTD risk variants in UNC13A exacerbate its cryptic splicing and loss upon TDP-43 mislocalization

The paper shows that ALS/FTD risk variants in UNC13A increase sensitivity to TDP-43 depletion by promoting cryptic exon inclusion and protein loss.

Altered sensory neuron development in CMT2D mice is site-specific and linked to increased GlyRS levels

Developmental demands contribute to early neuromuscular degeneration in CMT2D mice

This study examines neuromuscular junction (NMJ) pathology in CMT2D mice, finding a distal-to-proximal denervation gradient and identifying post-natal synaptic growth as a factor in neurodegeneration.

Post-synaptic morphology of mouse neuromuscular junctions is linked to muscle fibre type

This study quantifies post-synaptic NMJ morphology in different mouse muscles and finds it correlates with fibre type, not diameter, and shows NMJ growth rates vary across muscles.

Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy

This study shows that loss of BICD2 in muscle drives motor neuron loss in SMALED2 through a non-cell autonomous mechanism involving impaired secretory pathways.

ALS mice carrying pathological mutant TDP-43, but not mutant FUS, display axonal transport defects in vivo

The paper examines axonal transport defects in two ALS mouse models, finding that TDP-43 mutations cause transport issues while FUS mutations do not.

DYNLRB1 is Essential for Dynein Mediated Transport and Neuronal Survival

This study shows DYNLRB1 is essential for dynein-mediated transport and sensory neuron survival, with loss-of-function leading to embryonic lethality and neuronal deficits.

FUS ALS-causative mutations impact FUS autoregulation and the processing of RNA-binding proteins through intron retention

This study identifies how ALS-causative FUS mutations disrupt RNA processing and autoregulation, with implications for broader ALS genetic interactions.

Neuropilin 1 sequestration by neuropathogenic mutant glycyl-tRNA synthetase is permissive to vascular development and homeostasis

The paper shows that mutant GlyRS disrupts Nrp1/VEGF-A signaling but does not affect vascular development or maintenance in CMT2D mice.

Sensory neuron fate is developmentally perturbed by Gars mutations causing human neuropathy

This study shows Gars mutations disrupt sensory neuron subtype balance in CMT2D mice, causing sensory defects and indicating both developmental and degenerative mechanisms contribute to the disease.