0000000000420349

AUTHOR

Ludo Van Den Bosch

0000-0003-0104-4067

showing 4 related works from this author

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

2021

Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder.

Hereditary sensory neuropathy; L-serine; Mutations; Deoxysphingolipids; AccumulationEnzyme complexJuvenile amyotrophic lateral sclerosisSerine C-Palmitoyltransferase/dk/atira/pure/subjectarea/asjc/2700/2728Whole Exome Sequencing0302 clinical medicineMedicineFamily historyAmyotrophic lateral sclerosisChildIndex caseExome sequencingOriginal Investigation0303 health sciencesNeurosciences and neurology3. Good healthChild PreschoolFailure to thriveFemalemedicine.symptomLife Sciences & BiomedicineL-SERINECommentsHumanAdultmedicine.medical_specialtyAdolescent; Adult; Amyotrophic Lateral Sclerosis; Child; Child Preschool; Female; Genetic Predisposition to Disease; Humans; Mutation; Serine C-Palmitoyltransferase; Whole Exome Sequencing; Young AdultAdolescentClinical NeurologyNO03 medical and health sciencesYoung AdultDEOXYSPHINGOLIPIDSInternal medicineExome SequencingOnline FirstHumansJuvenileGenetic Predisposition to DiseasePreschool030304 developmental biologyACCUMULATIONScience & TechnologySPTLC1business.industryMUTATIONSResearchAmyotrophic Lateral Sclerosis3112 Neurosciencesmedicine.diseaseHEREDITARY SENSORY NEUROPATHYjuvenileMutation3111 BiomedicineNeurology (clinical)Neurosciences & NeurologyALSgeneticbusiness030217 neurology & neurosurgeryAmyotrophic Lateral Sclerosi
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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

2016

Seuls les 100 premiers auteurs dont les auteurs INRA ont été entrés dans la notice. La liste complète des auteurs et de leurs affiliations est accessible sur la publication.; International audience; In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues…

[SDV]Life Sciences [q-bio]autophagosomeReview Articleddc:616.07stressstreLC3MESH: AnimalsSettore MED/49 - Scienze Tecniche Dietetiche ApplicateSettore BIO/06 - Anatomia Comparata E Citologiachaperone-mediated autophagyComputingMilieux_MISCELLANEOUSSettore BIO/11Pharmacology. TherapySettore BIO/13standards [Biological Assay]autolysosomeMESH: Autophagy*/physiologylysosomemethods [Biological Assay]Biological AssaySettore BIO/17 - ISTOLOGIAErratumHumanBiochemistry & Molecular BiologySettore BIO/06physiology [Autophagy]Chaperonemediated autophagy[SDV.BC]Life Sciences [q-bio]/Cellular BiologyNOautophagy guidelines molecular biology ultrastructureautolysosome; autophagosome; chaperone-mediated autophagy; flux; LC3; lysosome; macroautophagy; phagophore; stress; vacuoleMESH: Biological Assay/methodsMESH: Computer Simulationddc:570Autolysosome Autophagosome Chaperonemediated autophagy Flux LC3 Lysosome Macroautophagy Phagophore Stress VacuoleAutophagyAnimalsHumansComputer SimulationSettore BIO/10ddc:612BiologyphagophoreMESH: HumansvacuoleAnimalLC3; autolysosome; autophagosome; chaperone-mediated autophagy; flux; lysosome; macroautophagy; phagophore; stress; vacuole; Animals; Biological Assay; Computer Simulation; Humans; Autophagy0601 Biochemistry And Cell BiologyfluxmacroautophagyMESH: Biological Assay/standards*Human medicineLC3; autolysosome; autophagosome; chaperone-mediated autophagy; flux; lysosome; macroautophagy; phagophore; stress; vacuole
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Erratum

2016

Author(s): Klionsky, DJ; Abdelmohsen, K; Abe, A; Abedin, MJ; Abeliovich, H; Arozena, AA; Adachi, H; Adams, CM; Adams, PD; Adeli, K; Adhihetty, PJ; Adler, SG; Agam, G; Agarwal, R; Aghi, MK; Agnello, M; Agostinis, P; Aguilar, PV; Aguirre-Ghiso, J; Airoldi, EM; Ait-Si-Ali, S; Akematsu, T; Akporiaye, ET; Al-Rubeai, M; Albaiceta, GM; Albanese, C; Albani, D; Albert, ML; Aldudo, J; Algul, H; Alirezaei, M; Alloza, I; Almasan, A; Almonte-Beceril, M; Alnemri, ES; Alonso, C; Altan-Bonnet, N; Altieri, DC; Alvarez, S; Alvarez-Erviti, L; Alves, S; Amadoro, G; Amano, A; Amantini, C; Ambrosio, S; Amelio, I; Amer, AO; Amessou, M; Amon, A; An, Z; Anania, FA; Andersen, SU; Andley, UP; Andreadi, CK; Andrieu-Ab…

0301 basic medicineSettore BIO/06biologyCell Biology[SDV.BC]Life Sciences [q-bio]/Cellular Biologybiology.organism_classificationCell biologyInterpretation (model theory)03 medical and health sciencesArama030104 developmental biologyMolecular BiologyHumanitiesComputingMilieux_MISCELLANEOUS
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