Macarena Cabrera‐Serrano
A5016823690- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Genomics and Rare Diseases
- Ubiquitin and proteasome pathways
- Myasthenia Gravis and Thymoma
- Mitochondrial Function and Pathology
- Hereditary Neurological Disorders
- Peripheral Neuropathies and Disorders
- Cardiovascular Effects of Exercise
- Genetics and Neurodevelopmental Disorders
- Muscle and Compartmental Disorders
- RNA modifications and cancer
- RNA Research and Splicing
- RNA regulation and disease
- Inflammatory Myopathies and Dermatomyositis
- Plant biochemistry and biosynthesis
- Parkinson's Disease and Spinal Disorders
- Family and Disability Support Research
- Respiratory Support and Mechanisms
- Congenital Anomalies and Fetal Surgery
- Forensic and Genetic Research
- Romani and Gypsy Studies
Hospital Universitario Virgen Macarena
2025
Hospital Universitario Virgen del Rocío
2015-2024
Instituto de Biomedicina de Sevilla
2015-2024
Universidad de Sevilla
2014-2024
Harry Perkins Institute of Medical Research
2014-2024
Biomedical Research Networking Center on Neurodegenerative Diseases
2016-2024
Instituto de Salud Carlos III
2020-2024
The University of Western Australia
2014-2023
Universitat Autònoma de Barcelona
2021
Institut de génétique et de biologie moléculaire et cellulaire
2018
Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV)-2 infection induces an exacerbated inflammation driven by innate immunity components. Dendritic cells (DCs) play a key role in the defense against viral infections, for instance plasmacytoid DCs (pDCs), have capacity to produce vast amounts of interferon-alpha (IFN-α). In COVID-19 there is deficit DC numbers and IFN-α production, which has been associated with disease severity. this work, we described that addition deficiency, several...
Abstract Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Using Sanger and exome sequencing a CMS patient, we identified two heteroallelic mutations, p.Glu1233Lys p.Arg1277His, LRP4 coding for postsynaptic low-density lipoprotein receptor-related protein 4. LRP4, expressed on surface membrane junction, receptor neurally secreted agrin, bound agrin activates MuSK....
Research Article10 October 2016Open Access Source DataTransparent process A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss Emilia Servián-Morilla Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad Spain Centro Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Search for more papers by this author Hideyuki Takeuchi...
Abstract Oculopharyngodistal myopathy (OPDM) is an inherited manifesting with ptosis, dysphagia and distal weakness. Pathologically it characterised by rimmed vacuoles intranuclear inclusions on muscle biopsy. In recent years CGG • CCG repeat expansion in four different genes were identified OPDM individuals Asian populations. None of these have been found affected non-Asian ancestry. this study we describe the identification expansions ABCD3 , ranging from 118 to 694 repeats, 35 across...
<h3>Background and Objectives</h3> To study the clinical laboratory features of antineurofascin-155 (NF155)–positive autoimmune nodopathy (AN). <h3>Methods</h3> Patients with anti-NF155 antibodies detected on routine immunologic testing were included. Clinical characteristics, treatment response, functional scales (modified Rankin Scale [mRS] Inflammatory Rasch-built Overall Disability [I-RODS]) retrospectively collected at baseline follow-up. Autoantibody neurofilament light (NfL) chain...
Dystroglycanopathies are a heterogeneous group of diseases with broad phenotypic spectrum ranging from severe disorders congenital muscle weakness, eye and brain structural abnormalities intellectual delay to adult-onset limb-girdle muscular dystrophies without mental retardation. Most frequently the disease onset is or during childhood. The exception FKRP mutations, in which adult common presentation. Here we report eight patients five non-consanguineous families where next generation...
To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in national referral center.
To identify the spectrum of causes, analyze usefulness diagnostic tests, and recognize prognostic factors in patients with acute neuromuscular respiratory failure.We evaluated 85 admitted to intensive care unit (ICU) at Mayo Clinic, Rochester, between 2003 2009 failure, defined as a need for mechanical ventilation owing primary impairment peripheral nervous system. Outcome was assessed hospital discharge last follow-up. Poor outcome modified Rankin score greater than 3.The median age 66...
Abstract The aim was to assess the ability of nasopharyngeal SARS-CoV-2 viral load at first patient’s hospital evaluation predict unfavorable outcomes. We conducted a prospective cohort study including 321 adult patients with confirmed COVID-19 through RT-PCR in swabs. Quantitative Synthetic RNA cycle threshold values were used calculate log 10 copies/mL. Disease severity end follow up categorized into mild, moderate, and severe. Primary endpoint composite intensive care unit (ICU) admission...
Aims Recessive variants in CAPN3 gene are the cause of commonest form autosomal recessive limb girdle muscle dystrophy. However, two distinct in‐frame deletions (NM_000070.3:c.643_663del21 and c.598_621del15) more recently, Gly445Arg Arg572Pro substitutions have been linked to dominant (AD) forms calpainopathy. We report 21 affected individuals from seven unrelated families presenting with an muscular dystrophy associated five different heterozygous missense CAPN . Methods used massively...
TRIM32 is a E3 ubiquitin -ligase containing RING, B-box, coiled-coil and six C-terminal NHL domains. Mutations involving domains result in pure myopathy (LGMD2H/STM) while the only described mutation B-box domain associated with multisystemic disorder without (Bardet-Biedl syndrome type11), suggesting that these are involved distinct processes. Knock-out (T32KO) knock-in mice carrying c.1465G > A (p.D489N) (T32KI) show alterations muscle regrowth after atrophy satellite cells senescence....
UBA5 is the activating enzyme of UFM1 in ufmylation post-translational modification system. Different neurological phenotypes have been associated with pathogenic variants including epilepsy, intellectual disability, movement disorders and ataxia.We describe a large multigenerational consanguineous family presenting severe congenital neuropathy causing early death infancy. Whole exome sequencing linkage analysis identified novel homozygous NM_024818.3 c.31C>T (p.Arg11Trp) mutation. Protein...
Abstract Rhabdomyolysis is the acute breakdown of skeletal myofibres in response to an initiating factor, most commonly toxins and over exertion. A variety genetic disorders predispose rhabdomyolysis through different pathogenic mechanisms, particularly patients with recurrent episodes. However, cases remain without a diagnosis. Here we present six who presented severe rhabdomyolysis, usually onset teenage years; other features included history myalgia muscle cramps. We identified 10...
Background and purpose: Define the usefulness of pulmonary function tests (PFT) arterial blood gases (ABG) in patients admitted to ICU with acute neuromuscular respiratory failure (NMRF). Methods: We reviewed 76 an at Mayo Clinic (Rochester) between 2003 2009 NMRF defined as need for mechanical ventilation (MV) because primary impairment peripheral nervous system. Poor functional outcome was a modified Rankin score >3. Results: Median age 65 years. The most frequent diagnosis myasthenia...
To describe a large series of BIN1 patients, in which novel founder mutation the Roma population southern Spain has been identified.Patients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease (n = 53) were screened mutations. Clinical, histologic, radiologic, and genetic features analyzed.Eighteen patients from 13 families carried p.Arg234Cys variant; 16 them homozygous it 2 had compound heterozygous p.Arg234Cys/p.Arg145Cys Both variants have...
Mutations in the choline kinase beta (CHKB) gene are associated with a congenital muscular dystrophy giant mitochondria at periphery of muscle fibers.We describe patient Italian origin whom whole-exome sequencing revealed novel homozygous nonsense mutation, c.648C>A, p.(Tyr216*), exon 5 CHKB.The presented limb-girdle weakness and hypotonia from birth mental retardation, had sudden transient deteriorations strength acute intercurrent illnesses. Previously undescribed sarcolemmal...
The extracellular matrix (ECM) has an important role in the development and maintenance of skeletal muscle, several muscle diseases are associated with dysfunction ECM elements. MAMDC2 is a putative protein its cell proliferation been investigated certain cancer types. However, participation physiology not previously studied. We describe 17 individuals autosomal dominant muscular dystrophy belonging to two unrelated families which different heterozygous truncating variants last exon...
Abstract Myoglobin, encoded by MB , is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O 2, facilitates its intracellular transport serves as controller of nitric oxide reactive oxygen species. Here, we identify recurrent c.292C>T (p.His98Tyr) substitution fourteen members six European families suffering from an autosomal dominant progressive myopathy with characteristic sarcoplasmic inclusions muscle....
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by biallelic mutation of the SMN1 gene, located on long arm chromosome 5, and predominantly affects motor neurons anterior horn spinal cord, causing progressive muscle weakness atrophy. The development disease-modifying treatments significantly changing natural history SMA, but uncertainty remains about which patients can benefit from these how that should be measured.A group experts specialised in neurology,...
ABSTRACT Individuals affected by inherited neuromuscular diseases often present with a specific pattern of muscle weakness, which can guide clinicians in genetic investigations and variant interpretation. Nonetheless, more than 50% cases do not receive diagnosis. Oculopharyngodistal myopathy (OPDM) is an manifesting particular combination ptosis, dysphagia distal weakness. Pathologically it characterised rimmed vacuoles intranuclear inclusions on biopsy. In recent years GCC • CCG repeat...
An MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected members presented multiple congenital contractures and ophthalmoplegia, progressing to proximal myopathy adulthood. Another patient p.(Leu1870Pro) described, presenting as ophthalmoplegia. Here, we present symptoms beginning at age 16 years, of prominent distal but also weakness, bulbar involvement Initially, clinically classified oculopharyngodistal myopathy, found...