Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies

Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease

(2012) T. A. Rouault   Disease Models & Mechanisms

Unanswered Questions in Friedreich Ataxia

(2012) David R. Lynch et al.   JOURNAL OF CHILD NEUROLOGY

Iron–sulfur cluster synthesis, iron homeostasis and oxidative stress in Friedreich ataxia

(2012) Rachael A. Vaubel et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Is Friedreich ataxia an epigenetic disorder?

(2012) Daman Kumari et al.   Clinical Epigenetics

A gene expression phenotype in lymphocytes from friedreich ataxia patients

(2011) Giovanni Coppola et al.   ANNALS OF NEUROLOGY

FXN methylation predicts expression and clinical outcome in Friedreich ataxia

(2011) Marguerite V. Evans-Galea et al.   ANNALS OF NEUROLOGY

Friedreich's ataxia: the vicious circle hypothesis revisited

(2011) Aurélien Bayot et al.   BMC Medicine

Friedreich's ataxia: Past, present and future

(2011) Daniele Marmolino   BRAIN RESEARCH REVIEWS

Phosphatidylinositol-4-Phosphate-5-Kinase   Deficiency Alters Dynamics of Glucose-Stimulated Insulin Release to Improve Glucohomeostasis and Decrease Obesity in Mice

(2011) P. Huang et al.   DIABETES

Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability

(2010) Sherman Ku et al.   Cell Stem Cell

Do chromatin loops provide epigenetic gene expression states?

(2010) Wulan Deng et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Altered lipid metabolism in a Drosophila model of Friedreich's ataxia

(2010) J. A. Navarro et al.   HUMAN MOLECULAR GENETICS

Phosphatidylinositol-4-Phosphate 5-Kinases and Phosphatidylinositol 4,5-Bisphosphate Synthesis in the Brain

(2010) Laura A. Volpicelli-Daley et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rac controls PIP5K localisation and PtdIns(4,5)P2 synthesis, which modulates vinculin localisation and neurite dynamics

(2010) J. R. Halstead et al.   JOURNAL OF CELL SCIENCE

Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function

(2010) Mary A. Selak et al.   MITOCHONDRION

Type I Phosphatidylinositol Phosphate Kinase Beta Regulates Focal Adhesion Disassembly by Promoting  1 Integrin Endocytosis

(2010) W.-T. Chao et al.   MOLECULAR AND CELLULAR BIOLOGY

Cell adhesion: integrating cytoskeletal dynamics and cellular tension

(2010) J. Thomas Parsons et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Regulation of the Actin Cytoskeleton-Plasma Membrane Interplay by Phosphoinositides

(2010) Juha Saarikangas et al.   PHYSIOLOGICAL REVIEWS

Two New Pimelic Diphenylamide HDAC Inhibitors Induce Sustained Frataxin Upregulation in Cells from Friedreich's Ataxia Patients and in a Mouse Model

(2010) Myriam Rai et al.   PLoS One

Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase

(2009) Brian G. Coon et al.   HUMAN MOLECULAR GENETICS

Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia

(2009) Giovanni Coppola et al.   HUMAN MOLECULAR GENETICS

PIP5K-driven PtdIns(4,5)P2 synthesis: regulation and cellular functions

(2009) I. van den Bout et al.   JOURNAL OF CELL SCIENCE

Friedreich ataxia: The clinical picture

(2009) Massimo Pandolfo   JOURNAL OF NEUROLOGY

Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities

(2009) Marco Sparaco et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Isolation of mitochondria-associated membranes and mitochondria from animal tissues and cells

(2009) Mariusz R Wieckowski et al.   Nature Protocols

Impaired Nuclear Nrf2 Translocation Undermines the Oxidative Stress Response in Friedreich Ataxia

(2009) Vincent Paupe et al.   PLoS One

Function and dysfunction of the PI system in membrane trafficking

(2008) Mariella Vicinanza et al.   EMBO JOURNAL