Marcos Frias

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 13 publications

GDAP1 orchestrates redox signaling at membrane contact sites to preserve axonal integrity in Charcot-Marie-tooth disease.

GDAP1 orchestrates redox signaling at membrane contact sites to preserve axonal integrity in Charcot-Marie-tooth disease.

Journal: Neurobiology of disease
Published: May 06, 2026

Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.

Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.

Journal: International journal of molecular sciences
Published: August 27, 2025

Optimized protocol for intracellular labeling of red blood cells with anti-hemoglobin F for confocal microscopy analysis.

Optimized protocol for intracellular labeling of red blood cells with anti-hemoglobin F for confocal microscopy analysis.

Journal: Micron (Oxford, England : 1993)
Published: April 02, 2025

Novel CYFIP2 Frameshift Variant Linked to Dyskinetic Crises: Functional Studies Show Impaired Cell Motility.

Novel CYFIP2 Frameshift Variant Linked to Dyskinetic Crises: Functional Studies Show Impaired Cell Motility.

Journal: Clinical genetics
Published: March 21, 2025

Abnormal redox balance at membrane contact sites causes axonopathy in GDAP1-related Charcot-Marie-Tooth disease.

Abnormal redox balance at membrane contact sites causes axonopathy in GDAP1-related Charcot-Marie-Tooth disease.

Journal: Research square
Published: January 13, 2025

The artificial intelligence challenge in rare disease diagnosis: A case study on collagen VI muscular dystrophy.

The artificial intelligence challenge in rare disease diagnosis: A case study on collagen VI muscular dystrophy.

Journal: Computers in biology and medicine
Published: November 18, 2024

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.

Journal: International journal of molecular sciences
Published: July 20, 2023

Detection of lesions in the optic nerve with magnetic resonance imaging using a 3D convolutional neural network.

Detection of lesions in the optic nerve with magnetic resonance imaging using a 3D convolutional neural network.

Journal: NeuroImage. Clinical
Published: August 11, 2022

A 25-Residue Peptide From Botrytis cinerea Xylanase BcXyn11A Elicits Plant Defenses.

A 25-Residue Peptide From Botrytis cinerea Xylanase BcXyn11A Elicits Plant Defenses.

Journal: Frontiers in plant science
Published: January 23, 2019

BcIEB1, a Botrytis cinerea secreted protein, elicits a defense response in plants.

BcIEB1, a Botrytis cinerea secreted protein, elicits a defense response in plants.

Journal: Plant science : an international journal of experimental plant biology
Published: February 07, 2016

The phytotoxic activity of the cerato-platanin BcSpl1 resides in a two-peptide motif on the protein surface.

The phytotoxic activity of the cerato-platanin BcSpl1 resides in a two-peptide motif on the protein surface.

Journal: Molecular plant pathology
Published: November 02, 2013

Botrytis cinerea protein O-mannosyltransferases play critical roles in morphogenesis, growth, and virulence.

Botrytis cinerea protein O-mannosyltransferases play critical roles in morphogenesis, growth, and virulence.

Journal: PloS one
Published: March 11, 2013
Showing 1-12 of 13

Last Updated: 09/26/2026