List of works - Montserrat Ruiz

A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis.

scientific article published on 14 October 2008

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

scientific article published on 15 August 2020

A novel mutation in the gene expands the phenotype of Alexander disease

article

Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy

scientific article published on 01 August 2018

Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy.

scientific article

Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy.

scientific article

Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.

scientific article

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

scientific article published on 01 October 2019

Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy

scientific article published on 15 October 2004

Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy

scientific article published on 20 April 2013

Long Survival in a Case of Peroxisomal Biogenesis Disorder with Peroxisome Mosaicism in the Liver

scientific article published on 01 December 1996

Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance

scientific article published on 5 October 2017

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

scientific article published on 11 February 2019

Mitochondrial dysfunction and oxidative damage cooperatively fuel axonal degeneration in X-linked adrenoleukodystrophy.

scientific article published on 24 September 2013

Mitochondrial dysfunction in central nervous system white matter disorders

scientific article published on 28 May 2014

Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy

scientific article

Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease

scientific article

Oxidative stress regulates the ubiquitin-proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy.

scientific article published in March 2013

Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: a paradigm for multifactorial neurodegenerative diseases?

scientific article published on 12 February 2012

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

scientific article published on 21 August 2019

Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy

scientific article

Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion"

scientific article published on 01 December 2019

Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury

scientific article published on 16 February 2016

Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy

scientific article published on 21 December 2016

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

scientific article published on 17 June 2016

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy

scientific article published on 23 February 2010

X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.

scientific article published in May 2005

List of works by Montserrat Ruiz

A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis.

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

A novel mutation in the gene expands the phenotype of Alexander disease

Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy

Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy.

Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy.

Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy

Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy

Long Survival in a Case of Peroxisomal Biogenesis Disorder with Peroxisome Mosaicism in the Liver

Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Mitochondrial dysfunction and oxidative damage cooperatively fuel axonal degeneration in X-linked adrenoleukodystrophy.

Mitochondrial dysfunction in central nervous system white matter disorders

Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy

Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease

Oxidative stress regulates the ubiquitin-proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy.

Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: a paradigm for multifactorial neurodegenerative diseases?

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy

Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion"

Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury

Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.