Jose A Sánchez-Alcázar

Jose A Sánchez-Alcázar
Universidad Pablo de Olavide | UPO · Departamento de Fisiología, Anatomía y Biología Celular

BSc Biology, MD, PhD, Clinical chemist, Professor Cell Biology
Looking for collaborations for clinical trials in PKAN, PLAN, KAT6A, Friedreich Ataxia and mitochondrial diseases.

About

199
Publications
101,732
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8,637
Citations
Citations since 2016
100 Research Items
7019 Citations
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Introduction
Coenzyme Q10, Primary and secondary Coenzyme Q10 deficiencies, Mitophagy, Mitochondrial diseases, Congenital Myopathies, Lysosomal diseases, Familial Hypercholesterolemia, Neurodegeneration with Brain Iron Accumulation, Apoptosis during development, Apoptosis and cancer chemotherapy, Autophagy/Apoptosis switch, Nemalinic Myopathies KAT6A Syndrome https://sanchezalcazarlab.com/ https://encyclopedia.pub/video/video_detail/361
Additional affiliations
November 2018 - present
Universidad Pablo de Olavide
Position
  • Professor (Full)
Description
  • Professor. Cell Biology
January 2008 - November 2022
Centro de Investigación Biomédica en Red de Enfermedades Raras
Position
  • Research Associate
Description
  • Research in Rare Diseases
January 2001 - November 2018
Universidad Pablo de Olavide-CABD-CSIC
Position
  • Professor
Education
September 1981 - June 1986
Universidad de Sevilla
Field of study
September 1981 - June 1986
September 1975 - June 1980

Publications

Publications (199)
Article
Full-text available
Abstract Blackground: Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity, neuropsychiatric symptoms, and retinal degeneration or optic nerve atrophy. Pantothena...
Article
Full-text available
Mitochondrial dysfunction is a key hub common to many diseases. Their role in energy produc-tion, calcium homeostasis and ROS balance makes mitochondria essential for cell survival and fitness. However, there are no effective treatments for most mitochondrial and related diseases to this day. Therefore, new therapeutic approaches like activation of...
Article
Mitochondrial diseases are a heterogeneous group of rare genetic disorders caused by mutations in nuclear or mitochondrial DNA (mtDNA). These diseases are frequently multisystemic, although mainly affect tissues that require large amounts of energy such as the brain. Mutations in mitochondrial transfer RNA (mt-tRNA) lead to defects in protein trans...
Poster
Full-text available
Background: Mitochondrial diseases represent one of the most common groups of genetic diseases. With a prevalence greater than 1 in 5000 adults, such diseases still lack effective treatment. Novel approaches to compensate and, if possible, revert mitochondrial dysfunction must be developed. The mitochondrial Unfolded Protein Response (UPR mt) is a...
Presentation
Full-text available
Pterostilbene in combination with mitochondrial cofactors improve mitochondrial function in cellular models of primary coenzyme Q10 deficiency (COQ7 mutation).
Preprint
Autism Spectrum disorder (ASD) and intellectual disability (ID) are the most frequent develop-mental disorders with a prevalence between 3% and 5% of the population. In addition, both ASD and ID can be found in the same patient. Mutations in several genes involved in the epigenetic regulation of gene expression have been linked to different ID asso...
Preprint
Full-text available
Background Neurodegeneration with brain iron accumulation (NBIA) disorders are a group of neurodegenerative diseases that have in common the accumulation of iron in the basal nuclei of the brain which are essential components of the extrapyramidal system. Frequent symptoms are progressive spasticity, dystonia, muscle rigidity, neuropsychiatric symp...
Conference Paper
Full-text available
Precision Medicine in Mitochondrial Diseases
Article
Full-text available
Lipid peroxidation and iron accumulation are closely associated with neurodegenerative diseases, such as Alzheimer´s, Parkinson´s and Huntington´s diseases or Neurodegeneration with Brain Iron Accumulation (NBIA) disorders. Mitochondrial dysfunction, lipofuscin accumulation, autophagy disruption, and ferroptosis have been implicated as the critical...
Preprint
Full-text available
Blackground: Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity, neuropsychiatric symptoms, and retinal degeneration or optic nerve atrophy. Pantothenate kinase...
Preprint
Full-text available
Blackground: Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity, neuropsychiatric symptoms, and retinal degeneration or optic nerve atrophy. Pantothenate kinase...
Preprint
Full-text available
Blackground: Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity, neuropsychiatric symptoms, and retinal degeneration or optic nerve atrophy. Pantothenate kinase...
Preprint
Full-text available
In this manuscript, we examined the therapeutic effectiveness of pantothenate, panthetine, antioxidants (vitamin E and omega 3) and mitochondrial function boosting supplements (L-carnitine and thiamine) in mutant PANK2 cells with residual expression levels. Results: Commercial supplements, pantothenate, pantethine, vitamin E, omega 3, carnitine and...
Article
Full-text available
Background: Mitochondrial diseases represent one of the most common groups of genetic diseases. With a prevalence greater than 1 in 5000 adults, such diseases still lack effective treatment. Current therapies are purely palliative and, in most cases, insufficient. Novel approaches to compensate and, if possible, revert mitochondrial dysfunction mus...
Article
Full-text available
Mitochondrial diseases are genetic disorders caused by mutations in genes in the nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) that encode mitochondrial structural or functional proteins. Although considered “rare” due to their low incidence, such diseases affect thousands of patients’ lives worldwide. Despite intensive research efforts, most mi...
Article
Full-text available
Background: PLA2G6-Associated Neurodegeneration (PLAN) is a rare neurodegenerative disease with autosomal recessive inheritance, which belongs to the NBIA (Neurodegeneration with Brain Iron Accumulation) group. Although the pathogenesis of the disease remains largely unclear, lipid peroxidation seems to play a central role in the pathogenesis. Curr...
Article
Full-text available
Background PLA2G6-Associated Neurodegeneration (PLAN) is a rare neurodegenerative disease with autosomal recessive inheritance, which belongs to the NBIA (Neurodegeneration with Brain Iron Accumulation) group. Although the pathogenesis of the disease remains largely unclear, lipid peroxidation seems to play a central role in the pathogenesis. Curre...
Research Proposal
Full-text available
Medicina de Precisión Personalizada en las Enfermedades Raras Contacto: José A Sánchez Alcázar, jasanalc@upo.es, tfno.+34 954978071 Centro Andaluz de Biología del Desarrollo Universidad Pablo de Olavide, Sevilla
Experiment Findings
Full-text available
Presentation
Full-text available
Article
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic neurological disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity, neuropsychiatric symptoms, and retinal degeneration or optic nerve atrophy. Pantothenate kinase-associate...
Article
Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. The most prevalent form of NBIA is pantothenate kinase-associated ne...
Article
Full-text available
The discovery and application of antibiotics in the common clinical practice has undeniably been one of the major medical advances in our times. Their use meant a drastic drop in infectious diseases-related mortality and contributed to prolonging human life expectancy worldwide. Nevertheless, antibiotics are considered by many a double-edged sword....
Article
Full-text available
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic neurological disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity, neuropsychiatric symptoms, and retinal degeneration or optic nerve atrophy. Pantothenate kinase-associate...
Article
Full-text available
The human iPSC cell lines, PLANFiPS1-Sv4F-1 (RCPFi004-A), PLANFiPS2-Sv4F-1 (RCPFi005-A), PLANFiPS3-Sv4F-1 RCPFi006-A), derived from dermal fibroblast from three patients suffering PLAN (PLA2G6-associated neurodegeneration; MIM 256600) caused by mutations in the PLA2G6 gene, was generated by non-integrative reprogramming technology using OCT3/4, SOX...
Article
Full-text available
Inflammation is a key process in metazoan organisms due to its relevance for the innate defense against infections and tissue damage. However, inflammation is also implicated in pathological processes such as atherosclerosis. Atherosclerosis is a chronic inflammatory disease of the arterial wall where unstable atherosclerotic plaque rupture causing...
Cover Page
Full-text available
In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monit...
Preprint
Full-text available
In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monit...
Article
Full-text available
Coenzyme Q10 (CoQ10 or ubiquinone) is a mobile proton and electron carrier of the mitochondrial respiratory chain with antioxidant properties widely used as antiaging health supplement and to relieve the symptoms of many pathological conditions associated with mitochondrial dysfunction. Even though the hegemony of CoQ10 on the context of antioxidan...
Preprint
Full-text available
the PDF can be download freely on pubmed. https://pubmed.ncbi.nlm.nih.gov/33634751/
Cover Page
Full-text available
In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monit...
Article
Full-text available
In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monit...
Preprint
Full-text available
Background Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic neurological disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity, neuropsychiatric symptoms, and retinal degeneration or optic nerve atrophy. Pantothenate kinas...
Article
Malignancies such as lung, breast and pancreatic carcinomas are associated with increased expression of the epidermal growth factor receptor, EGFR, and its role in the pathogenesis and progression of tumors has made this receptor a prime target in the development of antitumor therapies. In therapies targeting EGFR, the development of resistance owi...
Article
Full-text available
Mitochondrial diseases are a heterogeneous group of rare genetic disorders that can be caused by mutations in nuclear (nDNA) or mitochondrial DNA (mtDNA). Mutations in mtDNA are associated to several maternally inherited genetic diseases which main pathological feature is mitochondrial dysfunction. These diseases although frequently multisystemic,...
Article
Full-text available
Rare diseases are those that have a low prevalence in the population (less than 5 individuals per 10,000 inhabitants). However, infrequent pathologies affect a large number of people, since according to the World Health Organization, there are about 7,000 rare diseases that affect 7% of the world's population. Many patients with rare diseases have...
Article
Full-text available
The aim of this review is to shed light over the most recent advances in Coenzyme Q10 (CoQ10) applications as well as to provide detailed information about the functions of this versatile molecule, which have proven to be of great interest in the medical field. Traditionally, CoQ10 clinical use was based on its antioxidant properties; however, a wi...
Article
Full-text available
Background: Fibromyalgia (FM) is a common chronic pain disease, whose pathogenic mechanism still remains elusive. Oxidative stress markers and impaired bioenergetics homeostasis have been proposed as relevant events in the pathogenesis of the disease. Hence, the aim of the study is to analyse the potential biomarkers of mitochondrial imbalance in...
Article
Mitochondrial diseases are considered rare genetic disorders characterized by defects in oxidative phosphorylation (OXPHOS). They can be provoked by mutations in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). MERRF (Myoclonic Epilepsy with Ragged-Red Fibers) syndrome is one of the most frequent mitochondrial diseases, principally caused by the m....
Article
Full-text available
The use of first and second generation antiepileptic drugs during pregnancy doubles the risk of major congenital malformations and other teratogenic defects. Lacosamide (LCM) is a third-generation antiepileptic drug that interacts with collapsing response mediator protein 2, a protein that has been associated with neurodevelopmental diseases like s...
Experiment Findings
Full-text available
Experiment Findings
Full-text available
Conference Paper
Full-text available
RESUMEN Las enfermedades raras son aquellas que tienen una baja prevalen-cia en la población (menos de 5 individuos por cada 10.000 habitantes). Sin embargo, las patologías poco frecuentes afectan a un gran número de personas ya que, según la Organización Mundial de la Salud, existen cerca de 7.000 enfermedades raras que afectan al 7 % de la poblac...
Article
Full-text available
Atherosclerosis is the most common cause of cardiac deaths worldwide. Classically, atherosclerosis has been explained as a simple arterial lipid deposition with concomitant loss of vascular elasticity. Eventually, this condition can lead to consequent blood flow reduction through the affected vessel. However, numerous studies have demonstrated that...
Article
Full-text available
Recent evidences highlight the importance of mitochondria-nucleus communication for the clinical phenotype of oxidative phosphorylation (OXPHOS) diseases. However, the participation of small non-coding RNAs (sncRNAs) in this communication has been poorly explored. We asked whether OXPHOS dysfunction alters the production of a new class of sncRNAs,...
Article
Full-text available
Mitochondrial diseases are a group of rare heterogeneous genetic disorders caused by total or partial mitochondrial dysfunction. They can be caused by mutations in nuclear or mitochondrial DNA (mtDNA). MERRF (Myoclonic Epilepsy with Ragged-Red Fibers) syndrome is one of the most common mitochondrial disorders caused by point mutations in mtDNA. It...
Article
Full-text available
Neurodegeneration with brain iron accumulation (NBIA) is a broad term that describes a heterogeneous group of progressive and invalidating neurologic disorders in which iron deposits in certain brain areas, mainly the basal ganglia. The predominant clinical symptoms include spasticity, progressive dystonia, Parkinson's disease-like symptoms, neurop...
Data
Our results illustrate that dysregulated mevalonate pathway associated with high intracellular cholesterol content and mitochondrial dysfunction as well as extensive mitophagy and inflammasome activation may participate in Familial Hypercholesterolemia (FH) pathophysiology. AMPK activation by CoQ10 treatment reduced SREBP-2 activation and cholester...
Article
Full-text available
Familial Hypercholesterolemia (FH) is an autosomal co-dominant genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol levels and increased risk for premature cardiovascular disease. Here, we examined FH pathophysiology in skin fibroblasts derived from FH patients harbouring heterozygous mutations in the LDL-receptor. F...
Article
Full-text available
Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. The most prevalent form of NBIA is pantothenate kinase-associated ne...
Article
The last stage of neural tube (NT) formation involves closure of the caudal neural plate (NP), an embryonic structure formed by neuromesodermal progenitors and newly differentiated cells that becomes incorporated into the NT. Here we show that as cell specification progresses, neuromesodermal progenitors and their progeny undergo significant change...
Article
Background: Cathepsin C (CatC) is a lysosomal enzyme involved in the activation of serine proteases from immune and inflammatory cells. Several mutations with loss of function in the Cathepsin C (CatC) gene have been shown to be the genetic mark of Papillon-Lefèvre syndrome (PLS), a rare autosomal recessive disease characterized by severe early-ons...
Article
Full-text available
Silver nanoparticles offer a huge potential for biomedical applications owing to their exceptional properties and small size. Specifically, cysteamine-capped silver nanoparticles could form the basis for new anticancer therapies combining the cytotoxic effect of the silver core with the inherent antitumor activity of cysteamine, which inhibit cance...
Article
Full-text available
During apoptosis, cells undergo characteristic morphological changes in which the cytoskeleton plays an active role. The cytoskeleton rearrangements have been mainly attributed to actinomyosin ring contraction, while microtubule and intermediate filaments are depolymerized at early stages of apoptosis. However, recent results have shown that microt...