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L’ataxie cérébelleuse du Lagotto romagnolo est une maladie neurologique progressive d’origine génétique caractérisée par une incoordination des mouvements ainsi que des troubles comportementaux dus à une altération de l’autophagie basale des cellules au niveau du système nerveux. Les premiers signes cliniques se manifestent chez le jeune adulte et peuvent évoluer très rapidement. Il n’existe à ce jour aucun traitement disponible et les cas les plus sévères nécessitent un protocole de fin de vie précoce afin d’éviter une altération du confort de vie de l’animal mais aussi celui de son propriétaire. Divers outils diagnostiques sont disponibles parmi lesquels le test génétique, détecte l’allèle muté du gène ATG4D causal lié à l’autophagie dont le mode de transmission autosomique récessif est prouvé. 
La sensibilisation des éleveurs de la race à cette maladie ainsi qu’une gestion adaptée des animaux porteurs de cette mutation via l’utilisation du test ADN sont primordiales et peuvent réellement participer par le suivi de programmes de sélection stricts, à l’éradication de la maladie au sein de la race.

cerebellum --- ataxia --- Lagotto romagnolo --- autophagy --- inherited disorders --- genetic diversity --- breeding programs --- Sciences du vivant > Génétique & processus génétiques

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Following the implementation of next-generation sequencing technologies (e.g., exome and genome sequencing) in molecular diagnostics, the majority of genetic defects underlying inherited retinal disease (IRD) can readily be identified. In parallel, opportunities to counteract the molecular consequences of these defects are rapidly emerging, providing hope for personalized medicine. ‘Classical’ gene augmentation therapy has been under study for several genetic subtypes of IRD and can be considered a safe and sometimes effective therapeutic strategy. The recent market approval of the first retinal gene augmentation therapy product (LuxturnaTM, for individuals with bi-allelic RPE65 mutations) by the FDA has not only demonstrated the potential of this specific approach, but also opened avenues for the development of other strategies. However, every gene—or even every mutation—may need a tailor-made therapeutic approach, in order to obtain the most efficacious strategy with minimal risks associated. In addition to gene augmentation therapy, other subtypes of molecular therapy are currently being designed and/or implemented, including splice modulation, DNA or RNA editing, optogenetics and pharmacological modulation. In addition, the development of proper delivery vectors has gained strong attention, and should not be overlooked when designing and testing a novel therapeutic approach. In this Special Issue, we aim to describe the current state of the art of molecular therapeutics for IRD, and discuss existing and novel therapeutic strategies, from idea to implementation, and from bench to bedside.

induced pluripotent stem cell (iPSC) --- clustered regularly interspaced short palindromic repeats (CRISPR) --- homology-directed repair (HDR) --- Enhanced S-Cone Syndrome (ESCS) --- NR2E3 --- AAV --- retina --- gene therapy --- dual AAV --- gold nanoparticles --- DNA-wrapped gold nanoparticles --- ARPE-19 cells --- retinal pigment epithelium --- clathrin-coated vesicles --- endosomal trafficking --- retinitis pigmentosa --- autosomal dominant --- G56R --- putative dominant negative effect --- gapmer antisense oligonucleotides --- allele-specific knockdown --- Leber congenital amaurosis and allied retinal ciliopathies --- CEP290 --- Flanders founder c.4723A &gt --- T nonsense mutation --- Cilia elongation --- spontaneous nonsense correction --- AON-mediated exon skipping --- microRNA --- photoreceptors --- rods --- cones --- bipolar cells --- Müller glia --- retinal inherited disorders --- retinal degeneration --- antisense oligonucleotides --- Stargardt disease --- inherited retinal diseases --- splicing modulation --- RNA therapy --- ABCA4 --- iPSC-derived photoreceptor precursor cells --- cyclic GMP --- apoptosis --- necrosis --- drug delivery systems --- translational medicine --- Usher syndrome --- Leber congenital amaurosis --- RPE65 --- nonprofit --- patient registry --- translational --- protein trafficking --- protein folding --- protein degradation --- chaperones --- chaperonins --- heat shock response --- unfolded protein response --- autophagy --- therapy --- IRD --- DNA therapies --- RNA therapies --- compound therapies --- clinical trials --- Retinitis Pigmentosa GTPase Regulator --- adeno-associated viral --- Retinitis Pigmentosa (RP) --- choroideremia --- REP1 --- inherited retinal disease --- treatment --- apical polarity --- crumbs complex --- fetal retina --- PAR complex --- retinal organoids --- retinogenesis --- gene augmentation --- adeno-associated virus (AAV) --- n/a --- Müller glia

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The suggestion for this collection of essays originated in part from a course given to graduate students at the University of Pennsylvania School of Medicine. In sections of this course, the conceptual developments in the fields of membrane transport and cellular respiration were traced to illustrate general aspects of the development of ideas in a scientific field. Discussions with peers on the topic also greatly enhanced the development of the project as it is reflected in this book. The volume reflects the breadth and scope of this rapidly developing field, and is an excellent treatise of a

Cell membranes --- Cell membranes. --- Cell surfaces --- Cytoplasmic membranes --- Plasma membranes --- Plasmalemma --- Membranes (Biology) --- Glycocalyces --- Amino acids --- Biological transport, active. --- Biochemistry --- Biochemistry. --- Biophysics. --- Dna repair. --- Dna replication. --- Dna --- Energy transfer. --- Energy metabolism --- Genetic code. --- Proteins --- Rna --- Sulfur --- Metabolism --- Disorders. --- Metabolism. --- History. --- Biosynthesis. --- Research --- 577.1 --- Biochimie --- History --- Histoire --- DNA --- DNA Repair. --- DNA Replication. --- Genetic Code. --- Protein Biosynthesis. --- RNA --- biosynthesis. --- Molecular biology --- General biochemistry --- History of natural sciences --- Philosophy --- Physics, chemistry, biology. --- General. --- history --- Vitamins --- Trace elements --- Accessory elements --- Microelements --- Micronutrients --- Minerals, Trace --- Minor elements --- Trace metals --- Trace minerals --- Agricultural chemicals --- Chemical elements --- Nutrition --- Avitaminosis --- DNA Repair --- DNA Replication --- Genetic Code --- Protein Biosynthesis --- Protein Biosynthesis, Ribosomal --- Protein Synthesis, Ribosomal --- Ribosomal Peptide Biosynthesis --- mRNA Translation --- Genetic Translation --- Peptide Biosynthesis, Ribosomal --- Protein Translation --- Translation, Genetic --- Biosynthesis, Protein --- Biosynthesis, Ribosomal Peptide --- Biosynthesis, Ribosomal Protein --- Genetic Translations --- Ribosomal Protein Biosynthesis --- Ribosomal Protein Synthesis --- Synthesis, Ribosomal Protein --- Translation, Protein --- Translation, mRNA --- mRNA Translations --- Peptide Biosynthesis --- Codon, Initiator --- Codon, Terminator --- Code, Genetic --- Codes, Genetic --- Genetic Codes --- Codon --- Histone Code --- Replication, Autonomous --- Autonomous Replication --- Autonomous Replications --- DNA Replications --- Replication, DNA --- Replications, Autonomous --- Replications, DNA --- DNA-Binding Proteins --- Virus Replication --- S Phase --- Base Excision Repair --- Excision Repair --- Nucleotide Excision Repair --- Base Excision Repairs --- Excision Repair, Base --- Excision Repair, Nucleotide --- Excision Repairs --- Nucleotide Excision Repairs --- Repair, Base Excision --- Repair, Excision --- Repairs, Base Excision --- DNA-Formamidopyrimidine Glycosylase --- DNA Repair Enzymes --- Targeted Gene Repair --- biosynthesis --- Issue --- 577.122 --- 577.122 Protein metabolism --- Protein metabolism --- metabolism --- Amino Acid Metabolism, Inborn Errors --- Amino Acids --- 577.1 <035> --- Metabolism&delete& --- Disorders --- Amino Acid Metabolism Disorders, Inborn --- Amino Acid Metabolism, Inborn Error --- Amino Acid Metabolism, Inherited Disorders --- Amino Acidopathies, Inborn --- Congenital Amino Acidopathies --- Inborn Errors, Amino Acid Metabolism --- Inherited Errors of Amino Acid Metabolism --- Amino Acidopathies, Congenital --- Amino Acidopathy, Congenital --- Amino Acidopathy, Inborn --- Congenital Amino Acidopathy --- Inborn Amino Acidopathies --- Inborn Amino Acidopathy --- Amino compounds --- Organic acids --- Peptides --- 577.1 <035> Chemical bases of life. Biochemistry and bio-organic chemistry generally--Grote handboeken. Compendia --- Chemical bases of life. Biochemistry and bio-organic chemistry generally--Grote handboeken. Compendia --- Amino acid metabolism --- Amino acid metabolism, Inborn errors of --- Aminoacidopathies --- Molécules --- Molécules --- Sulphur - Metabolism --- Amino acids - Metabolism - Disorders --- Amino acids - Metabolism --- Amino Acids - metabolism --- Sulfur - metabolism --- Acides aminés --- metabolism. --- Métabolisme --- Bioenergetics --- Microbial respiration --- Carbohydrates --- Carbohydrate metabolism --- Biological chemistry --- Chemical composition of organisms --- Organisms --- Physiological chemistry --- Biology --- Chemistry --- Medical sciences --- Composition --- Biochemistry - history --- Energy metabolism - Research - History --- Structure moléculaire --- Alchemy [not cas] --- Sulphur