about
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type IMolecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritanceMissense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyHSPB1 facilitates the formation of non-centrosomal microtubulesIncreased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathyDistal myopathy with upper limb predominance caused by filamin C haploinsufficiencyUnraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.Endophilin marks and controls a clathrin-independent endocytic pathway.MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets.Mutant HSPB8 causes motor neuron-specific neurite degeneration.Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative diseasePhD survival guide. Some brief advice for PhD students.Acute injury in the peripheral nervous system triggers an alternative macrophage response.HSPB1 facilitates ERK-mediated phosphorylation and degradation of BIM to attenuate endoplasmic reticulum stress-induced apoptosis.Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus.Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotoniaA Flat BAR Protein Promotes Actin Polymerization at the Base of Clathrin-Coated Pits
P50
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P50
description
hulumtues
@sq
researcher
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wetenschapper
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հետազոտող
@hy
name
Leonardo Almeida-Souza
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Leonardo Almeida-Souza
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Leonardo Almeida-Souza
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Leonardo Almeida-Souza
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Leonardo Almeida-Souza
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type
label
Leonardo Almeida-Souza
@ast
Leonardo Almeida-Souza
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Leonardo Almeida-Souza
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Leonardo Almeida-Souza
@nl
Leonardo Almeida-Souza
@sl
prefLabel
Leonardo Almeida-Souza
@ast
Leonardo Almeida-Souza
@en
Leonardo Almeida-Souza
@es
Leonardo Almeida-Souza
@nl
Leonardo Almeida-Souza
@sl
P108
P106
P21
P31
P496
0000-0002-7169-1238