List of works - Helene Puccio

2003 International Friedreich's Ataxia Research Conference, 14-16 February 2003, Bethesda, MD, USA.

scientific article published in January 2004

Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments.

scientific article published on 26 June 2007

An overview of current mouse models recapitulating coenzyme q10 deficiency syndrome

scientific article

Animal and cellular models of Friedreich ataxia.

scientific article published on August 2013

Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity

scientific article

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

scientific article

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

scientific article published on 01 September 2001

Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.

scientific article

Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.

scientific article

Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass

scientific article

Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues

scientific journal article

Frataxin: a protein in search for a function

scientific article published on August 2013

Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia

scientific journal article

Friedreich ataxia: a paradigm for mitochondrial diseases

scientific article

Human Nbp35 is essential for both cytosolic iron-sulfur protein assembly and iron homeostasis

scientific article

ISCA1 is essential for mitochondrial Fe4S4 biogenesis in vivo

scientific article

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

scientific journal article

Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency.

scientific article published on February 2015

Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen

scientific article

Mammalian Fe-S cluster biogenesis and its implication in disease.

scientific article

Mammalian frataxin controls sulfur production and iron entry during de novo Fe4S4 cluster assembly

scientific article published on 07 January 2013

Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.

scientific article

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

scientific journal article

Multicellular models of Friedreich ataxia.

scientific article published on March 2009

Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.

scientific article

Pathophysiogical and therapeutic progress in Friedreich ataxia

scientific article published on 29 April 2014

Red blood cell generation from human induced pluripotent stem cells: perspectives for transfusion medicine. ⬇️

scientific article

The diabetes drug target MitoNEET governs a novel trafficking pathway to rebuild an Fe-S cluster into cytosolic aconitase/iron regulatory protein 1

scientific article

The in vivo mitochondrial two-step maturation of human frataxin.

scientific article

The molecular genetics of coenzyme Q biosynthesis in health and disease.

scientific article published on 16 December 2013

Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models

scientific article

Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.

scientific article published on 22 April 2010

[Toward gene therapy for Friedreich ataxia-associated cardiomyopathy]

scientific article published on 14 October 2014

cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene

scientific article published in December 1994

List of works by Helene Puccio

2003 International Friedreich's Ataxia Research Conference, 14-16 February 2003, Bethesda, MD, USA.

Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments.

An overview of current mouse models recapitulating coenzyme q10 deficiency syndrome

Animal and cellular models of Friedreich ataxia.

Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.

Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.

Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass

Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues

Frataxin: a protein in search for a function

Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia

Friedreich ataxia: a paradigm for mitochondrial diseases

Human Nbp35 is essential for both cytosolic iron-sulfur protein assembly and iron homeostasis

ISCA1 is essential for mitochondrial Fe4S4 biogenesis in vivo

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency.

Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen

Mammalian Fe-S cluster biogenesis and its implication in disease.

Mammalian frataxin controls sulfur production and iron entry during de novo Fe4S4 cluster assembly

Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

Multicellular models of Friedreich ataxia.

Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.

Pathophysiogical and therapeutic progress in Friedreich ataxia

Red blood cell generation from human induced pluripotent stem cells: perspectives for transfusion medicine. ⬇️

The diabetes drug target MitoNEET governs a novel trafficking pathway to rebuild an Fe-S cluster into cytosolic aconitase/iron regulatory protein 1

The in vivo mitochondrial two-step maturation of human frataxin.

The molecular genetics of coenzyme Q biosynthesis in health and disease.

Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models

Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.

[Toward gene therapy for Friedreich ataxia-associated cardiomyopathy]

cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene