about
Guidelines for the use and interpretation of assays for monitoring autophagyEYA4, a novel vertebrate gene related to Drosophila eyes absentIdentification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeatsA homeobox gene, vax2, controls the patterning of the eye dorsoventral axisA member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardationSulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2Identification and characterization of a novel serine-threonine kinase gene from the Xp22 regionSpastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloproteaseRox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor.Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 regionHuman FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genesA cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathyA novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest originCloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS)Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationshipCharacterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane proteinStructure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intoleranceBiochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctataA new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3A new standard nomenclature for proteins related to Apx and ShroomSulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulumFunctional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycleDiverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North AmericaA block of autophagy in lysosomal storage disordersMolecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3)Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intoleranceThe ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cellsLack of sik1 in mouse embryonic stem cells impairs cardiomyogenesis by down-regulating the cyclin-dependent kinase inhibitor p57kip2The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatasesSystems medicine and integrated care to combat chronic noncommunicable diseases.Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder.A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEBCloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene.What else is in store for autophagy? Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease.A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes.TFE3 regulates whole-body energy metabolism in cooperation with TFEB.Lysosomal adaptation: how the lysosome responds to external cuesThe phytoestrogen genistein modulates lysosomal metabolism and transcription factor EB (TFEB) activation
P50
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P50
description
researcher ORCID: 0000-0003-1381-4604
@en
wetenschapper
@nl
name
Andrea Ballabio
@ast
Andrea Ballabio
@en
Andrea Ballabio
@es
Andrea Ballabio
@nl
type
label
Andrea Ballabio
@ast
Andrea Ballabio
@en
Andrea Ballabio
@es
Andrea Ballabio
@nl
altLabel
Andrea BALLABIO
@en
prefLabel
Andrea Ballabio
@ast
Andrea Ballabio
@en
Andrea Ballabio
@es
Andrea Ballabio
@nl
P106
P1153
7102874628
P21
P31
P496
0000-0003-1381-4604