0000000001148561

AUTHOR

Lu Zhang

showing 4 related works from this author

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

2012

Familial idiopathic basal ganglia calcification (IBGC) is a genetic condition with a wide spectrum of neuropsychiatric symptoms, including parkinsonism and dementia. Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes. Our results implicate altered phosphate homeostasis in the etiology of IBGC.

Genetic Markersmedicine.medical_specialtyGenetic LinkageMolecular Sequence DataMutation MissenseXenopusBasal ganglia calcification610 Medicine & healthPhosphates10052 Institute of PhysiologyXenopus laevis03 medical and health scienceschemistry.chemical_compound0302 clinical medicineAsian PeopleBasal Ganglia Diseases1311 GeneticsCalcinosisGenetic linkageInternal medicineGeneticsmedicineAnimalsHomeostasisHumansBasal ganglia disease030304 developmental biology0303 health sciencesBase SequencebiologySodium-Phosphate Cotransporter Proteins Type IIIParkinsonismCalcinosisSequence Analysis DNAmedicine.diseasePhosphatebiology.organism_classificationPedigreeEndocrinologychemistry10076 Center for Integrative Human PhysiologyOocytes570 Life sciences; biologyLod Score030217 neurology & neurosurgeryHomeostasisChromosomes Human Pair 8Nature genetics
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Genome-wide adaptive complexes to underground stresses in blind mole rats Spalax

2014

The blind mole rat (BMR), Spalax galili, is an excellent model for studying mammalian adaptation to life underground and medical applications. The BMR spends its entire life underground, protecting itself from predators and climatic fluctuations while challenging it with multiple stressors such as darkness, hypoxia, hypercapnia, energetics and high pathonecity. Here we sequence and analyse the BMR genome and transcriptome, highlighting the possible genomic adaptive responses to the underground stressors. Our results show high rates of RNA/DNA editing, reduced chromosome rearrangements, an over-representation of short interspersed elements (SINEs) probably linked to hypoxia tolerance, degene…

SpalaxGeneral Physics and AstronomyZoologyBiologyGenomeGeneral Biochemistry Genetics and Molecular BiologyEvolution MolecularHypercapniaTranscriptome03 medical and health sciences0302 clinical medicineStress PhysiologicalMoleAnimalsHypoxiaSpalax galiliShort Interspersed Nucleotide Elements030304 developmental biologyHigh rate0303 health sciencesGenomeMultidisciplinaryGene Expression ProfilingGeneral ChemistryDarknessbiology.organism_classificationAdaptation PhysiologicalEvolutionary biologySpalaxRNA EditingAdaptationTranscriptome030217 neurology & neurosurgeryNature Communications
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 1

2021

Contains fulltext : 232759.pdf (Publisher’s version ) (Closed access) 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 monitoring autophagy in different organisms. Despite numerous reviews, there continues to be confusion regarding acceptable methods to evaluate autophagy, especially in multicellular eukaryotes. Here, we present a set of guidelines for investigators to select and interpret methods to…

0301 basic medicineProgrammed cell deathSettore BIO/06AutophagosomeAutolysosome[SDV]Life Sciences [q-bio]lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]Autophagy-Related ProteinsReviewComputational biology[SDV.BC]Life Sciences [q-bio]/Cellular BiologyBiologySettore MED/0403 medical and health sciencesstressChaperone-mediated autophagyddc:570AutophagyLC3AnimalsHumanscancerSettore BIO/10Autophagosome; cancer; flux; LC3; lysosome; macroautophagy; neurodegeneration; phagophore; stress; vacuoleSet (psychology)Molecular Biologyvacuole.phagophore030102 biochemistry & molecular biologyvacuolebusiness.industryInterpretation (philosophy)AutophagyAutophagosomesneurodegenerationCell BiologyfluxMulticellular organismmacroautophagy030104 developmental biologyKnowledge baselysosomeAutophagosome; LC3; cancer; flux; lysosome; macroautophagy; neurodegeneration; phagophore; stress; vacuoleBiological AssayLysosomesbusinessBiomarkers[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Autophagy

2021

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 monitoring autophagy in different organisms. Despite numerous reviews, there continues to be confusion regarding acceptable methods to evaluate autophagy, especially in multicellular eukaryotes. Here, we present a set of guidelines for investigators to select and interpret methods to examine autophagy and related processes, and for reviewers to provide…

macroautophagy;autophagyAutophagosome[SDV]Life Sciences [q-bio]canceLC3 macroautophagyautophagosomeneurodegeneration;[SDV.BC]Life Sciences [q-bio]/Cellular BiologyAutophagy AutophagosomeNOstress vacuolestressautophagic processesstrerfluxLC3cancerguidelinesAutophagosome; cancer; flux; LC3; lysosome; macroautophagy; neurodegeneration; phagophore; stress; vacuoleSettore BIO/06 - Anatomia Comparata E Citologia[SDV.BC] Life Sciences [q-bio]/Cellular BiologyComputingMilieux_MISCELLANEOUSMedaka oryzias latipesphagophorevacuoleQHneurodegenerationAutophagosome cancer flux LC3 lysosome macroautophagy neurodegeneration phagophore stress vacuoleautophagy; autophagic processes; guidelines; autophagosome; cancer; flux; LC3; lysosome; macroautophagy; neurodegeneration; phagophore; stress; vacuolefluxmacroautophagystress.lysosomeAutophagosome; LC3; cancer; flux; lysosome; macroautophagy; neurodegeneration; phagophore; stress; vacuoleSettore BIO/17 - ISTOLOGIARC
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