List of works - Aurora Pujol

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

scientific article published on 18 December 2019

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

A view on clinical genetics and genomics in Spain: of challenges and opportunities

scientific article published on 18 July 2016

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations

scientific article (publication date: December 2001)

ABCD2 alters peroxisome proliferator-activated receptor α signaling in vitro, but does not impair responses to fenofibrate therapy in a mouse model of diet-induced obesity

scientific article

ABCD2 is abundant in adipose tissue and opposes the accumulation of dietary erucic acid (C22:1) in fat

scientific article published on January 2010

ATP and noradrenaline activate CREB in astrocytes via noncanonical Ca(2+) and cyclic AMP independent pathways

scientific article

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

scientific article published on 01 August 2018

Accelerated biological aging in COVID-19 patients

scientific article published in 2022

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

scientific article

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

scientific article published in December 2017

Amyloid generation and dysfunctional immunoproteasome activation with disease progression in animal model of familial Alzheimer's disease

scientific article published on 13 January 2012

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

scientific article

Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions

scientific article published on 10 January 2015

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

scientific article

Bezafibrate administration improves behavioral deficits and tau pathology in P301S mice ⬇️

scientific article published on August 24, 2012

Bezafibrate lowers very long‐chain fatty acids in X‐linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation ⬇️

scientific article published on March 24, 2012

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

scientific article published on 01 October 2021

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

scientific article published on 01 October 2019

Ceramide signalling in inherited and multifactorial brain metabolic diseases

scientific article published on 09 July 2020

Characterization of the Adrenoleukodystrophy-Related (ALDR, ABCD2) Gene Promoter: Inductibility by Retinoic Acid and Forskolin

article

Clinical presentation and proteomic signature of patients with TANGO2 mutations

scientific article published on 13 August 2019

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

scientific article published on 05 October 2019

Cyclophilin D as a potential target for antioxidants in neurodegeneration: the X-ALD case.

scientific article published on May 2013

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females

scientific article published on 28 August 2016

Deregulation of purine metabolism in Alzheimer's disease

scientific article published on 8 August 2014

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

scientific article published on 10 April 2018

Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy

scientific article

Epigenome-wide association study of COVID-19 severity with respiratory failure ⬇️

scientific article published on 15 April 2021

Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation.

scientific article published on 24 February 2018

Evaluation of afferent pain pathways in adrenomyeloneuropathic patients.

scientific article published on 24 December 2017

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

scientific article published on 01 June 2019

Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy

scientific article published on 17 November 2011

Functional genomics reveals dysregulation of cortical olfactory receptors in Parkinson disease: novel putative chemoreceptors in the human brain

scientific article

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

scientific article published on 15 October 2004

General aspects and neuropathology of X-linked adrenoleukodystrophy.

scientific article published on July 2010

Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.

scientific article published on 24 July 2017

Glutathione imbalance in patients with X-linked adrenoleukodystrophy ⬇️

scientific article published on May 22, 2013

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

scientific article

High-dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy

scientific article published on 08 June 2020

Histone Deacetylase Inhibitor Upregulates Peroxisomal Fatty Acid Oxidation and Inhibits Apoptotic Cell Death in Abcd1-Deficient Glial Cells ⬇️

scientific article published on July 26, 2013

Human genetic and immunological determinants of critical COVID-19 pneumonia

scientific article published on 28 January 2022

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

scientific article published on 20 April 2013

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

scientific article published on 05 October 2020

Improvement of the Rett syndrome phenotype in a MeCP2 mouse model upon treatment with levodopa and a dopa-decarboxylase inhibitor

scientific article

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage

scientific article

Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice

scientific article

Inhibition of parvovirus minute virus of mice replication by a peptide involved in the oligomerization of nonstructural protein NS1 ⬇️

scientific article published on October 1, 1997

Inhibition of transcription-regulating properties of nonstructural protein 1 (NS1) of parvovirus minute virus of mice by a dominant-negative mutant form of NS1.

scientific article

Insulin-like growth factor-1 and neurotrophin-3 gene therapy prevents motor decline in an X-linked adrenoleukodystrophy mouse model.

scientific article

Invariant NKT cells in adrenoleukodystrophy patients and mice

scientific article published on 01 December 2010

JNK/ERK/FAK mediate promigratory actions of basic fibroblast growth factor in astrocytes via CCL2 and COX2.

scientific article published on 22 December 2011

Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy

scientific article published in March 2002

Lipid alterations in human frontal cortex in ALS-FTLD-TDP43 proteinopathy spectrum are partly related to peroxisome impairment

scientific article published on 17 December 2020

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 function mutations in GEMIN5 cause a neurodevelopmental disorder

scientific article published on 07 May 2021

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

scientific article published on 11 February 2019

Methylene blue upregulates Nrf2/ARE genes and prevents tau-related neurotoxicity

scientific article

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

Mouse liver PMP70 and ALDP: homomeric interactions prevail in vivo.

scientific article

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

scientific article published on 7 December 2016

Neurochemistry and the non-motor aspects of PD.

scientific article published on June 2012

Neuroinflammatory signals in Alzheimer disease and APP/PS1 transgenic mice: correlations with plaques, tangles, and oligomeric species

scientific article published in April 2015

Novel Therapeutic Targets and Drug Candidates for Modifying Disease Progression in Adrenoleukodystrophy.

scientific article published on 10 December 2015

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 modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy

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

Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degeneration

scientific article

PDR-1/hParkin negatively regulates the phagocytosis of apoptotic cell corpses in Caenorhabditis elegans.

scientific article published on 13 March 2014

PGC-1α overexpression exacerbates β-amyloid and tau deposition in a transgenic mouse model of Alzheimer's disease

scientific article

POLR3A variants with striatal involvement and extrapyramidal movement disorder

scientific article published on 15 January 2020

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

scientific article published on 21 August 2019

Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis.

scientific article

PeroxisomeDB 2.0: an integrative view of the global peroxisomal metabolome

scientific article published in January 2010

PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease

scientific article published on 28 November 2006

Pharmacological Inhibition of poly(ADP-ribose) polymerases improves fitness and mitochondrial function in skeletal muscle

scientific article

Phylogenomic evidence for a myxococcal contribution to the mitochondrial fatty acid beta-oxidation

scientific article

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

SIRT2 in age-related neurodegenerative disorders.

scientific article published on 3 March 2018

Schilder's disease a heterogenous group of disorders known as X-linked adrenoleukodystrophy. Foreword

scientific article published in July 2010

Sequence and analysis of a 36.2 kb fragment from the right arm of yeast chromosome XV reveals 19 open reading frames including SNF2 (5' end), CPA1, SLY41, a putative transport ATPase, a putative ribosomal protein and an SNF2 homologue

scientific article published on April 1997

Staging anti-inflammatory therapy in Alzheimer's disease

scientific article published on 25 October 2010

Steroid hormones control circadian Elovl3 expression in mouse liver.

scientific article published on 21 February 2008

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

The Value of Mouse Models of Rare Diseases: A Spanish Experience

scientific article published on 14 October 2020

The absence of ABCD2 sensitizes mice to disruptions in lipid metabolism by dietary erucic acid

scientific article

The evolutionary origin of peroxisomes: an ER-peroxisome connection.

scientific article

The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy

scientific article published on 01 February 2020

The role of peroxisomal ABC transporters in the mouse adrenal gland: the loss of Abcd2 (ALDR), Not Abcd1 (ALD), causes oxidative damage

scientific article published on 29 January 2007

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia

scientific article published on 25 November 2019

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

List of works by Aurora Pujol

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

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

A view on clinical genetics and genomics in Spain: of challenges and opportunities

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations

ABCD2 alters peroxisome proliferator-activated receptor α signaling in vitro, but does not impair responses to fenofibrate therapy in a mouse model of diet-induced obesity

ABCD2 is abundant in adipose tissue and opposes the accumulation of dietary erucic acid (C22:1) in fat

ATP and noradrenaline activate CREB in astrocytes via noncanonical Ca(2+) and cyclic AMP independent pathways

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

Accelerated biological aging in COVID-19 patients

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

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

Amyloid generation and dysfunctional immunoproteasome activation with disease progression in animal model of familial Alzheimer's disease

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

Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions

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

Bezafibrate administration improves behavioral deficits and tau pathology in P301S mice ⬇️

Bezafibrate lowers very long‐chain fatty acids in X‐linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation ⬇️

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

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

Ceramide signalling in inherited and multifactorial brain metabolic diseases

Characterization of the Adrenoleukodystrophy-Related (ALDR, ABCD2) Gene Promoter: Inductibility by Retinoic Acid and Forskolin

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

Cyclophilin D as a potential target for antioxidants in neurodegeneration: the X-ALD case.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females

Deregulation of purine metabolism in Alzheimer's disease

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy

Epigenome-wide association study of COVID-19 severity with respiratory failure ⬇️

Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation.

Evaluation of afferent pain pathways in adrenomyeloneuropathic patients.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy

Functional genomics reveals dysregulation of cortical olfactory receptors in Parkinson disease: novel putative chemoreceptors in the human brain

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

General aspects and neuropathology of X-linked adrenoleukodystrophy.

Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.

Glutathione imbalance in patients with X-linked adrenoleukodystrophy ⬇️

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

High-dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy

Histone Deacetylase Inhibitor Upregulates Peroxisomal Fatty Acid Oxidation and Inhibits Apoptotic Cell Death in Abcd1-Deficient Glial Cells ⬇️

Human genetic and immunological determinants of critical COVID-19 pneumonia

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

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

Improvement of the Rett syndrome phenotype in a MeCP2 mouse model upon treatment with levodopa and a dopa-decarboxylase inhibitor

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage

Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice

Inhibition of parvovirus minute virus of mice replication by a peptide involved in the oligomerization of nonstructural protein NS1 ⬇️

Inhibition of transcription-regulating properties of nonstructural protein 1 (NS1) of parvovirus minute virus of mice by a dominant-negative mutant form of NS1.

Insulin-like growth factor-1 and neurotrophin-3 gene therapy prevents motor decline in an X-linked adrenoleukodystrophy mouse model.

Invariant NKT cells in adrenoleukodystrophy patients and mice

JNK/ERK/FAK mediate promigratory actions of basic fibroblast growth factor in astrocytes via CCL2 and COX2.

Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy

Lipid alterations in human frontal cortex in ALS-FTLD-TDP43 proteinopathy spectrum are partly related to peroxisome impairment

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

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Methylene blue upregulates Nrf2/ARE genes and prevents tau-related neurotoxicity

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

Mitochondrial dysfunction in central nervous system white matter disorders

Mouse liver PMP70 and ALDP: homomeric interactions prevail in vivo.

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Neurochemistry and the non-motor aspects of PD.

Neuroinflammatory signals in Alzheimer disease and APP/PS1 transgenic mice: correlations with plaques, tangles, and oligomeric species

Novel Therapeutic Targets and Drug Candidates for Modifying Disease Progression in Adrenoleukodystrophy.

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 modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy

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?

Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degeneration

PDR-1/hParkin negatively regulates the phagocytosis of apoptotic cell corpses in Caenorhabditis elegans.

PGC-1α overexpression exacerbates β-amyloid and tau deposition in a transgenic mouse model of Alzheimer's disease

POLR3A variants with striatal involvement and extrapyramidal movement disorder

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

Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis.