Lista de obras - Leonardo Almeida-Souza - Dominio Público Uruguay

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

artículo científico publicado en 2011

Endophilin marks and controls a clathrin-independent endocytic pathway.

artículo científico publicado en 2014

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

artículo científico publicado en 2017

HSPB1 facilitates the formation of non-centrosomal microtubules

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2021

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

artículo científico publicado en 2017

Mutant HSPB8 causes motor neuron-specific neurite degeneration.

artículo científico publicado en 2010

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

artículo científico publicado en 2010

PhD survival guide. Some brief advice for PhD students.

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Lista de obras de 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