List of works - Andrea Ballabio

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

scientific article

Guidelines for the use and interpretation of assays for monitoring autophagy

scientific article

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

scientific article

A gene network regulating lysosomal biogenesis and function

scientific article

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

scientific article

The DNA sequence of the human X chromosome

scientific article published on 17 March 2005

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Molecular definitions of autophagy and related processes.

scientific article published on 08 June 2017

Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB.

scientific article published on March 2015

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

scientific article published on 13 July 2011

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

scientific article published on 21 April 2013

Transcriptional activation of lysosomal exocytosis promotes cellular clearance

scientific article

A block of autophagy in lysosomal storage disorders

scientific article

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

scientific article published on 15 August 2010

Lysosomal disorders: from storage to cellular damage

scientific article published on 08 December 2008

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

scientific journal article

Autophagy in lysosomal storage disorders

scientific article

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

scientific article (publication date: 15 January 2002)

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

scientific article published on 18 April 2013

Human chromosome 21 gene expression atlas in the mouse

scientific article published in December 2002

MicroRNA target prediction by expression analysis of host genes

scientific article published on 16 December 2008

TFEB at a glance

scientific article

The European dimension for the mouse genome mutagenesis program

scientific article

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

scientific article

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

scientific article published on 5 May 2014

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

scientific article

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

scientific article

Lysosomal storage diseases: from pathophysiology to therapy.

scientific article

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

scientific article

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

scientific article

Transcriptional and epigenetic regulation of autophagy in aging

scientific article

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

scientific article

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.

scientific article

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

scientific article published on November 1, 2011

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

scientific article

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

Systems medicine and integrated care to combat chronic noncommunicable diseases

scientific article

Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship

scientific article

Sulfatases and human disease

scientific article

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

scientific article

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

scientific article published on 4 February 2013

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

scientific article

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

scientific article published on 5 June 2014

Lysosome: regulator of lipid degradation pathways

scientific article published on July 21, 2014

The sulfatase gene family

scientific article published on June 1, 1997

EYA4, a novel vertebrate gene related to Drosophila eyes absent

scientific article

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

scientific article published on 9 January 2007

List of works by Andrea Ballabio

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

Guidelines for the use and interpretation of assays for monitoring autophagy

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

A gene network regulating lysosomal biogenesis and function

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

The DNA sequence of the human X chromosome

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

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

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

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

Molecular definitions of autophagy and related processes.

Lysosomal calcium signalling regulates autophagy through calcineurin and ​TFEB.

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

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

Transcriptional activation of lysosomal exocytosis promotes cellular clearance

A block of autophagy in lysosomal storage disorders

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

Lysosomal disorders: from storage to cellular damage

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

Autophagy in lysosomal storage disorders

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

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

Human chromosome 21 gene expression atlas in the mouse

MicroRNA target prediction by expression analysis of host genes

TFEB at a glance

The European dimension for the mouse genome mutagenesis program

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

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

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

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

Lysosomal storage diseases: from pathophysiology to therapy.

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

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

Transcriptional and epigenetic regulation of autophagy in aging

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

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.

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

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

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

Systems medicine and integrated care to combat chronic noncommunicable diseases

Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship

Sulfatases and human disease

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

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

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

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

Lysosome: regulator of lipid degradation pathways

The sulfatase gene family

EYA4, a novel vertebrate gene related to Drosophila eyes absent

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

Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB.