A5019322038- Cell Adhesion Molecules Research
- Cerebrovascular and genetic disorders
- Metabolism and Genetic Disorders
- RNA regulation and disease
- Alzheimer's disease research and treatments
- Mitochondrial Function and Pathology
- Ion Transport and Channel Regulation
- RNA Research and Splicing
- Intracerebral and Subarachnoid Hemorrhage Research
- Platelet Disorders and Treatments
- Biochemical Acid Research Studies
- RNA modifications and cancer
- Renal and related cancers
- Nuclear Receptors and Signaling
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- RNA and protein synthesis mechanisms
- Blood Coagulation and Thrombosis Mechanisms
- Cancer, Hypoxia, and Metabolism
- Ocular Diseases and Behçet’s Syndrome
- Astronomy and Astrophysical Research
- Cardiac tumors and thrombi
- Neurological diseases and metabolism
- Lung Cancer Treatments and Mutations
- Metalloenzymes and iron-sulfur proteins
- Chromosomal and Genetic Variations
Université Paris Cité
2012-2021
Inserm
2003-2021
Assistance Publique – Hôpitaux de Paris
2010-2021
Délégation Paris 7
2016-2021
Université de Rouen Normandie
2021
Centre Hospitalier Universitaire de Grenoble
2021
Université Grenoble Alpes
2021
Normandie Université
2021
Lyon College
2021
Hospices Civils de Lyon
2021
The long interspersed element-1 (LINE-1 or L1) retrotransposition has altered the human genome in many ways. In particular, recent vitro studies have demonstrated that retrotranspositional insertion of L1 elements resulted significant genomic deletions. Here we provide evidence for its operation by identifying a approximately 46-kb pathological deletion PDHX gene directly linked to full-length element, patient with pyruvate dehydrogenase complex (PDHc) deficiency. Both deduced bottom and top...
To report a triplication of the amyloid-β precursor protein (APP) locus along with relative messenger RNA (mRNA) expression in family autosomal dominant early-onset cerebral amyloid angiopathy (CAA) and Alzheimer disease (AD).Four copies APP gene were identified by quantitative multiplex PCR short fluorescent fragments, situ hybridization (FISH), array comparative genomic hybridization. mRNA levels assessed using reverse-transcription-digital droplet proband's whole blood compared 10...
Pyruvate dehydrogenase (PDH) complex deficiency is a major cause of lactic acidosis and Leigh's encephalomyelopathies in infancy childhood, resulting early death the majority patients. Most molecular defects have been localized coding regions E1alpha PDH gene. Recently, we identified novel mutation gene patient with an encephalopathy acidosis. This mutation, located downstream exon 7, activates cryptic splice donor leads to retention intronic sequences. Here, demonstrate that results...
The most common causative diagnosis of hereditary small-vessel-disease the brain, CADASIL, is due to highly stereotyped mutations in NOTCH3 receptor. has 33 exons but all CADASIL occur within Epidermal Growth Factor-like Repeats encoded by 2–24, lead an odd number cysteine residues and are associated with GOM deposits abnormal protein accumulation. majority appear retain normal level signaling activity, while very few show reduced activity. Herein we identified a novel heterozygous missense...
ABSTRACT Objective To establish the prevalence of COL4A1 and COL4A2 gene mutations in fetuses presenting with a phenotype suggestive cerebral injury. Methods This was single‐center retrospective analysis all cases fetal anomalies or mutation over period 2009–2018. Inclusion criteria were: (1) severe and/or multifocal hemorrhagic lesions; (2) ischemic‐hemorrhagic lesions. These could be different ages associated schizencephaly porencephaly. Between those without mutation, we compared...
Mutations of the GnRH receptor have been recognized as a cause familial gonadotropin deficiency. We here identify and functionally characterize novel human variant bearing an Ala171Thr substitution located at transmembrane helix 4 (TMH4). The affected kindred displays severe hypogonadotropic hypogonadism. After in vitro expression embryonic kidney 293T cells, mutant exhibited lack phospholipase C activity signal transduction. Specific binding 125I-labeled ligand was undetectable...
<h3>ABSTRACT</h3> <h3>Objective:</h3> The detection of a leukoencephalopathy is frequent situation in neurologic practice. In number cases, the etiology remains obscure despite extensive investigations. We characterized clinical, pathologic, and genetic features novel hereditary vascular leukoencephalopathy. <h3>Methods:</h3> After observation similar 2 sisters, neuroimaging, molecular genetics investigations were conducted 21 their consenting relatives. Pathologic data obtained one patient....
A nonsmoking woman, aged 44 years, presented with transient right-sided hemiparesis. CT showed leukoencephalopathy without infarction (figure). Blood pressure was normal. count, plasma glucose levels, C-reactive protein, renal/liver function tests, cardiac enzymes, atrial natriuretic factor, HIV/syphilis/hepatitis B and C serology, lactic acid levels were Low-density lipoprotein (LDL) cholesterol slightly elevated (1.25 g/L). Screening tests for prothrombotic disorders (serum fibrinogen,...
Abstract Objective To describe the clinical course, neuroradiological presentation, biochemical and molecular studies of a new patient with pyruvate dehydrogenase complex (PDHc) deficiency. compare this case data on other published cases. Methods Brain magnetic resonance imaging (MRI), basal metabolic investigations lactate measurements in body fluids, PDHc activity assay cultured skin fibroblasts, immunoblot analysis (polymerase chain reaction [PCR] sequencing procedures). Results Our...
Mutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features the most prominent but as such rather nonspecific.Here, we report three new cases that, like five patients previously described, show novel common finding raised creatine kinase (CK) concentration.Raised CK concentration, addition to intracranial calcification, is be considered another useful pointer final diagnosis COL4A1-related disease.
DiscussionThe spectrum of COL4A1-related disorders includes perinatal cerebral hemorrhage and porencephaly [2] , small vessel disease with retinal arteriolar tortuosity leukoencephalopathy [3] HANAC syndrome (Hereditary Angiopathy, Nephropathy, Aneurysms, Muscle Cramps) other eye abnormalities, including the Axenfeld-Rieger anomaly cataract.A frequent white matter involvement is reported [3,4] .Interestingly, some patients may have a normal brain MRI.However, except for one patient who...
Numerous severe neurodegenerative and neuromuscular disorders, characterized biochemically by strong perturbations in energy metabolism, are correlated with single point mutations mitochondrial genes coding for transfer RNAs. Initial comparative proteomics performed on wild-type Myoclonic Epilepsy Ragged Red Fibers (MERRF) mitochondria from sibling human cybrid cell lines revealed the potential of this approach. Here a quantitative analysis several hundred silver-stained spots separated...
The gene COL4A1 encodes the α1 chain of type IV collagen, a basement-membrane protein implying vascular parietal strength. Mutations in have been described families with diffuse small-vessel disease brain, resulting perinatal stroke, congenital porencephaly, extensive leukoencephalopathy, intracerebral hemorrhage, and retinal arteriolar tortuosity.1–4 Our observation extends clinical magnetic resonance (MR) phenotype mutation. ### Case reports. A 21-year-old man without neurologic medical...
Abstract We report a case of neonatal congenital lactic acidosis associated with pyruvate dehydrogenase E3‐binding protein deficiency in newborn girl. She had severe encephalopathy, and magnetic resonance imaging the brain showed large subependymal cysts no basal ganglia lesions. died 35 days after birth. detected novel homozygous deletion (620delC) PDX1 gene, which encodes for E3BP subunit complex.