Filtros de búsqueda

Lista de obras de Andrea Ballabio

A RANKL-PKCβ-TFEB signaling cascade is necessary for lysosomal biogenesis in osteoclasts

artículo científico publicado en 2013

A block of autophagy in lysosomal storage disorders

artículo científico publicado en 2008

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

artículo científico publicado en 1995

A deletion map of the human Yq11 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis

artículo científico publicado en 1991

A gene network regulating lysosomal biogenesis and function

artículo científico publicado en 2009

A high-resolution anatomical atlas of the transcriptome in the mouse embryo

artículo científico publicado en 2011

A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.

artículo científico publicado en 2013

A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis

artículo científico publicado en 1999

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

artículo científico publicado en 2012

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation

artículo científico publicado en 2000

A method to direct sequence cosmid LAWRIST16 clones.

artículo científico publicado en 1997

A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes

artículo científico publicado en 2010

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

artículo científico publicado en 1998

A new region of conservation is defined between human and mouse X chromosomes.

artículo científico publicado en 1996

A new standard nomenclature for proteins related to Apx and Shroom

artículo científico publicado en 2006

A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin

artículo científico publicado en 1997

A practical guide to orient yourself in the labyrinth of genome databases ⬇️

artículo científico publicado el 1 de enero de 1998

A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dubé syndrome

artículo científico publicado en 2020

A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells

artículo científico publicado en 2019

A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm.

artículo científico publicado en 1993

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.

artículo científico publicado en 2006

Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer

artículo científico publicado en 2005

An in vivo doxycycline-controlled expression system for functional studies of the retina

artículo científico publicado en 2003

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3

scientific article published on 01 October 1995

Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder

artículo científico publicado en 2012

Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS).

artículo científico publicado en 2012

Autophagy in astrocytes: a novel culprit in lysosomal storage disorders

artículo científico publicado en 2012

Autophagy in lysosomal storage disorders

artículo científico publicado en 2012

Autophagy master regulator TFEB induces clearance of toxic SERPINA1/α-1-antitrypsin polymers

artículo científico publicado en 2013

Autosomal dominant transmission of familial laterality defects

article

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata

artículo científico publicado en 1998

Brain tyrosinase overexpression implicates age-dependent neuromelanin production in Parkinson's disease pathogenesis

article

Cell metabolism: Autophagy transcribed

artículo científico publicado en 2014

Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein

artículo científico publicado en 1995

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways

artículo científico publicado en 2011

Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency.

artículo científico publicado en 1994

Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.

artículo científico publicado en 1999

Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS)

artículo científico publicado en 1996

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

artículo científico publicado en 2018

Contiguous deletion syndromes.

artículo científico publicado en 1991

Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery

artículo científico publicado en 2006

Cystic fibrosis: A disorder with defective autophagy

artículo científico publicado en 2011

DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes

artículo científico publicado en 2005

Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition

artículo científico publicado en 2010

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

artículo científico publicado en 2013

Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice.

artículo científico publicado en 1995

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

artículo científico publicado en 2001

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

EYA4, a novel vertebrate gene related to Drosophila eyes absent

artículo científico publicado en 1999

Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes.

artículo científico publicado en 2002

Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder

artículo científico publicado en 2011

Enhanced lysosomal degradation maintains the quiescent state of neural stem cells

scientific article published on 29 November 2019

Erratum: TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

scholarly article published in Nature Cell Biology

Evidence for Genetic Heterogeneity in Benign Familial Hematuria

article

Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc 4 expression levels in Mus spretus and Mus musculus ⬇️

artículo científico publicado el 19 de agosto de 1997

FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

artículo científico publicado en 1998

Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23

artículo científico publicado en 2003

Fighting Rare Diseases: The Model of the Telethon Research Institutes in Italy

article

Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement

artículo científico publicado en 2007

Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle

artículo científico publicado en 1999

Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes

artículo científico publicado en 2007

GADD34 is a modulator of autophagy during starvation

scientific article published on 25 September 2020

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency

artículo científico publicado en 2013

Genetic and Physical Mapping of a Voltage-Dependent Chloride Channel Gene to Human 4q32 and to Mouse 8

article

Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.

artículo científico publicado en 1985

Genetics of disease

scientific article published on 02 May 2006

Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties

artículo científico publicado en 2008

Guidelines for the use and interpretation of assays for monitoring autophagy

artículo científico publicado en 2012

Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes

artículo científico publicado en 2008

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

artículo científico publicado en 2003

High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1)

article

Histone methyl-transferases and demethylases in the autophagy regulatory network: the emerging role of KDM1A/LSD1 demethylase

artículo científico publicado en 2018

Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes

artículo científico publicado en 1998

Human chromosome 21 gene expression atlas in the mouse

artículo científico publicado en 2002

Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata

artículo científico publicado en 2004

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

artículo científico publicado en 1998

Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane

artículo científico publicado en 2000

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

artículo científico publicado en 1996

Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region

artículo científico publicado en 1997

Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22

artículo científico publicado en 1999

Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders.

artículo científico publicado en 2000

Identification of microRNA-regulated gene networks by expression analysis of target genes

artículo científico publicado en 2012

Identification of new markers in Xp21 between DXS28 (C7) and DMD

artículo científico publicado el 1 de agosto de 1992

Impaired TFEB-mediated lysosomal biogenesis promotes the development of pancreatitis in mice and is associated with human pancreatitis

scientific article published on 30 March 2019

Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases

artículo científico publicado en 2012

Induction of lysosomal biogenesis in atherosclerotic macrophages can rescue lipid-induced lysosomal dysfunction and downstream sequelae

artículo científico publicado en 2014

Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly

Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial

artículo científico publicado en 2014

Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene.

artículo científico publicado en 1992

Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain

artículo científico publicado en 2002

JAGGED2: a putative Notch ligand expressed in the apical ectodermal ridge and in sites of epithelial–mesenchymal interactions ⬇️

artículo científico publicado el 1 de diciembre de 1997

Keeping the autophagy tempo

artículo científico publicado en 2019

LC3 lipidation is essential for TFEB activation during the lysosomal damage response to kidney injury

artículo científico publicado en 2020

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis

artículo científico publicado en 1999

Lack of sik1 in mouse embryonic stem cells impairs cardiomyogenesis by down-regulating the cyclin-dependent kinase inhibitor p57kip2

scientific journal article

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase

artículo científico publicado en 2002

Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance

scientific article published on 10 March 2020

Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.

artículo científico publicado en 2001

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

artículo científico publicado en 2003

Lysosomal adaptation: how the lysosome responds to external cues

artículo científico publicado en 2014

Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB.

artículo científico publicado en 2015

Lysosomal disorders: from storage to cellular damage

artículo científico publicado en 2008

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders

artículo científico publicado en 2010

Lysosomal storage diseases: from pathophysiology to therapy.

artículo científico publicado en 2015

Lysosome signaling controls the migration of dendritic cells

artículo científico publicado en 2017

Lysosome: regulator of lipid degradation pathways

artículo científico publicado en 2014

Lysosomes as dynamic regulators of cell and organismal homeostasis

scientific article published on 25 November 2019

Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome

article

Mammalian X-chromosome inactivation and the XIST gene

artículo científico publicado el 1 de junio de 1992

Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1

article

MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B

artículo científico publicado en 2020

MicroRNA target prediction by expression analysis of host genes

artículo científico

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases

artículo científico publicado en 2005

Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling

artículo científico publicado en 2016

Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG)

artículo científico publicado en 2002

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

artículo científico publicado en 2004

Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3)

artículo científico publicado en 1996

Molecular definitions of autophagy and related processes.

artículo científico publicado en 2017

Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels

artículo científico publicado en 1989

Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation

artículo científico publicado en 2008

Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.

artículo científico publicado en 2008

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

artículo científico publicado en 2006

Neuronal-Targeted TFEB Accelerates Lysosomal Degradation of APP, Reducing Aβ Generation and Amyloid Plaque Pathogenesis

artículo científico publicado en 2015

New mutations identified in the ocular albinism type 1 gene

article

New targets for old diseases: lessons from mucolipidosis type II.

artículo científico publicado en 2013

Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock

scientific article published on 24 May 2019

On the primary site of control in the spontaneous development of small-intestinal sucrase-isomaltase after birth

article

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease

artículo científico publicado en 2007

Phosphorylation-regulated degradation of the tumor-suppressor form of PED by chaperone-mediated autophagy in lung cancer cells.

artículo científico publicado en 2014

Proteoglycan desulfation determines the efficiency of chondrocyte autophagy and the extent of FGF signaling during endochondral ossification

artículo científico publicado en 2008

Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor.

artículo científico publicado en 1997

STUB1 regulates TFEB-induced autophagy-lysosome pathway

artículo científico publicado en 2017

SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies

artículo científico publicado en 2007

Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy.

artículo científico publicado en 2007

Selective clearance of aberrant tau proteins and rescue of neurotoxicity by transcription factor EB

artículo científico publicado en 2014

Self-eating in skeletal development: implications for lysosomal storage disorders

artículo científico publicado en 2009

Signals from the lysosome: a control centre for cellular clearance and energy metabolism

artículo científico publicado en 2013

Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance

scientific journal article

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

artículo científico publicado en 1998

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

artículo científico publicado en 2002

Steroid sulphatase deficiency and hypogonadism

artículo científico publicado en 1984

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

artículo científico publicado en 2000

Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency

artículo científico publicado en 1987

Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum

artículo científico publicado en 2007

Sulfatases and human disease

artículo científico publicado en 2005

Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship

artículo científico publicado en 2005

Sulfatases are determinants of alveolar formation

artículo científico publicado en 2012

Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2

artículo científico publicado en 2005

Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency

artículo científico publicado en 2007

Systems medicine and integrated care to combat chronic noncommunicable diseases

artículo científico publicado en 2011

T. rex attacks the lysosome ⬇️

artículo científico publicado el 1 de enero de 2013

TFE3 regulates whole-body energy metabolism in cooperation with TFEB.

artículo científico publicado en 2017

TFEB at a glance

artículo científico publicado en 2016

TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

artículo científico publicado en 2013

TFEB controls vascular development by regulating the proliferation of endothelial cells

article

TFEB regulates autophagy: An integrated coordination of cellular degradation and recycling processes ⬇️

artículo científico publicado el 1 de noviembre de 2011

TFEB regulates lysosomal exocytosis of tau and its loss of function exacerbates tau pathology and spreading

artículo científico publicado en 2020

TFEB regulates murine liver cell fate during development and regeneration

scientific article published on 18 May 2020

TRIM9 is specifically expressed in the embryonic and adult nervous system

artículo científico publicado en 2002

TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKβ/VPS34 pathway

artículo científico publicado en 2019

Tagging genes with cassette-exchange sites

artículo científico publicado en 2005

TargetFinder: searching annotated sequence databases for target genes of transcription factors

article

Telencephalic embryonic subtractive sequences: a unique collection of neurodevelopmental genes.

artículo científico publicado en 2005

The DNA sequence of the human X chromosome

artículo científico publicado en 2005

The European dimension for the mouse genome mutagenesis program

artículo científico publicado en 2004

The complex relationship between TFEB transcription factor phosphorylation and subcellular localization

scientific article published on 15 May 2018

The gene for X-linked Kallmann syndrome: a human neuronal migration defect.

artículo científico publicado en 1992

The homeodomain-interacting protein kinase 2 gene is expressed late in embryogenesis and preferentially in retina, muscle, and neural tissues

artículo científico publicado en 2002

The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome

article

The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis

artículo científico publicado en 2004

The mouse iduronate sulfatase gene: identification of a novel transcript.

artículo científico publicado en 1993

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases

scientific journal article

The ocular albinism type 1 (OA1) gene controls melanosome maturation and size

artículo científico publicado en 2005

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

artículo científico publicado en 2008

The phytoestrogen genistein modulates lysosomal metabolism and transcription factor EB (TFEB) activation

artículo científico publicado en 2014

The rise and fall of positional cloning?

artículo científico publicado en 1993

The sulfatase gene family ⬇️

artículo científico publicado el 1 de junio de 1997

The sulfatase gene family: cross-species PCR cloning using the MOPAC technique

artículo científico publicado el 1 de abril de 1992

Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

artículo científico publicado en 2013

Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth

artículo científico publicado en 2017

Transcriptional activation of lysosomal exocytosis promotes cellular clearance

artículo científico publicado en 2011

Transcriptional and epigenetic regulation of autophagy in aging

artículo científico publicado en 2015

Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region

artículo científico publicado en 1990

Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.

artículo científico publicado en 1995

What else is in store for autophagy? Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease

artículo científico publicado en 2013

Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis.

artículo científico publicado en 2014

X chromosome gene dosage compensation in female mammals

article

X-inactivation and human disease: X-linked dominant male-lethal disorders

artículo científico publicado en 2006

X-linked Kallmann syndrome. A neuronal targeting defect in the olfactory system?

artículo científico publicado en 1993

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum

artículo científico publicado en 2003

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome

artículo científico publicado en 1986

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

artículo científico publicado en 1999

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.

artículo científico publicado en 1997

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

artículo científico publicado en 2016

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda