List of works - Leonardo Almeida-Souza

A Flat BAR Protein Promotes Actin Polymerization at the Base of Clathrin-Coated Pits ⬇️

scientific article published on 07 June 2018

Acute injury in the peripheral nervous system triggers an alternative macrophage response.

scientific article published on 20 July 2012

Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus.

scientific article published in May 2016

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

scientific article

Endophilin marks and controls a clathrin-independent endocytic pathway.

scientific article published on 17 December 2014

HSPB1 facilitates ERK-mediated phosphorylation and degradation of BIM to attenuate endoplasmic reticulum stress-induced apoptosis.

scientific article published on 31 August 2017

HSPB1 facilitates the formation of non-centrosomal microtubules

scientific article

Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy

scientific journal article

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets

scientific article

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

scientific article

Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance

scientific article

Multidimensional Dynamics of the Proteome in the Neurodegenerative and Aging Mammalian Brain

scientific article published on 31 December 2021

Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease

scientific article published on 11 January 2017

Mutant HSPB8 causes motor neuron-specific neurite degeneration.

scientific article published on 10 June 2010

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

scientific article

PhD survival guide. Some brief advice for PhD students.

scientific article published on March 2012

Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.

scientific article

Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.

scientific article published in October 2011

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

scientific article published on 18 September 2014

List of works by Leonardo Almeida-Souza

A Flat BAR Protein Promotes Actin Polymerization at the Base of Clathrin-Coated Pits ⬇️

Acute injury in the peripheral nervous system triggers an alternative macrophage response.

Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus.

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Endophilin marks and controls a clathrin-independent endocytic pathway.

HSPB1 facilitates ERK-mediated phosphorylation and degradation of BIM to attenuate endoplasmic reticulum stress-induced apoptosis.

HSPB1 facilitates the formation of non-centrosomal microtubules

Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance

Multidimensional Dynamics of the Proteome in the Neurodegenerative and Aging Mammalian Brain

Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease

Mutant HSPB8 causes motor neuron-specific neurite degeneration.

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

PhD survival guide. Some brief advice for PhD students.

Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.

Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach