MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Pontocerebellar Hypoplasia: a Pattern Recognition Approach

(2020) Christina T. Rüsch et al.   CEREBELLUM

Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene

(2020) Giulia Menara et al.   Stem Cell Research

New options of cancer treatment employing InsP6

(2019) Maria A. Brehm et al.   BIOCHEMICAL PHARMACOLOGY

ITPK1 mediates the lipid-independent synthesis of inositol phosphates controlled by metabolism

(2019) Yann Desfougères et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus

(2019) Mariam Lofty Khaled et al.   Scientific Reports

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

(2018) Anthony Drecourt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

(2018) Jean Chemin et al.   BRAIN

Classification and molecular pathogenesis of NBIA syndromes

(2018) Ivano Di Meo et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia

(2018) Monica Juneja et al.   JOURNAL OF GENE MEDICINE

What’s new in pontocerebellar hypoplasia? An update on genes and subtypes

(2018) Tessa van Dijk et al.   Orphanet Journal of Rare Diseases

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse

(2018) Rizwan Yousaf et al.   PLoS Genetics

Lithium and fluoxetine regulate the rate of phosphoinositide synthesis in neurons: a new view of their mechanisms of action in bipolar disorder

(2018) Adolfo Saiardi et al.   Translational Psychiatry

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

(2018) Daniel Medina-Cano et al.   eLife

Reduced Cytosolic Calcium as an Early Decisive Cellular State in Parkinson’s Disease and Synucleinopathies

(2018) Cristine Betzer et al.   Frontiers in Neuroscience

STIM1 Regulates Somatic Ca 2+ Signals and Intrinsic Firing Properties of Cerebellar Purkinje Neurons

(2017) Changhyeon Ryu et al.   JOURNAL OF NEUROSCIENCE

Ca2+ coding and decoding strategies for the specification of neural and renal precursor cells during development

(2016) Marc Moreau et al.   CELL CALCIUM

Manganese and aging

(2016) Nancy L. Parmalee et al.   NEUROTOXICOLOGY

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

(2016) Hisham Megahed et al.   Orphanet Journal of Rare Diseases

Mendelian disorders of PI metabolizing enzymes

(2015) Leopoldo Staiano et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Wilson's disease and other neurological copper disorders

(2015) Oliver Bandmann et al.   LANCET NEUROLOGY

Extracellular Mipp1 Activity Confers Migratory Advantage to Epithelial Cells during Collective Migration

(2015) Yim Ling Cheng et al.   Cell Reports

Editorial: Metals and neurodegeneration: restoring the balance

(2015) Anthony R. White et al.   Frontiers in Aging Neuroscience

A novel method for the purification of inositol phosphates from biological samples reveals that no phytate is present in human plasma or urine

(2015) M. S. C. Wilson et al.   Open Biology

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

(2014) Ender Karaca et al.   CELL

Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms

(2014) Sonia Levi et al.   Frontiers in Pharmacology

Inositol pyrophosphates: between signalling and metabolism

(2013) Miranda S. C. Wilson et al.   BIOCHEMICAL JOURNAL

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

(2013) Naiara Akizu et al.   CELL

Modulation of inositol polyphosphate levels regulates neuronal differentiation

(2013) Omar Loss et al.   MOLECULAR BIOLOGY OF THE CELL

Complex Actions of Ionomycin in Cultured Cerebellar Astrocytes Affecting Both Calcium-Induced Calcium Release and Store-Operated Calcium Entry

(2013) Margit S. Müller et al.   NEUROCHEMICAL RESEARCH

Potential of Phytase-Mediated Iron Release from Cereal-Based Foods: A Quantitative View

(2013) Anne Nielsen et al.   Nutrients

Differentiation from human pluripotent stem cells of cortical neurons of the superficial layers amenable to psychiatric disease modeling and high-throughput drug screening

(2013) C Boissart et al.   Translational Psychiatry

Tumour cells can employ extracellular Ins(1,2,3,4,5,6)P6and multiple inositol-polyphosphate phosphatase 1 (MINPP1) dephosphorylation to improve their proliferation

(2012) Sabine Windhorst et al.   BIOCHEMICAL JOURNAL

Impairment of Interrelated Iron- and Copper Homeostatic Mechanisms in Brain Contributes to the Pathogenesis of Neurodegenerative Disorders

(2012) Tina Skjørringe et al.   Frontiers in Pharmacology

Micronutrient bioavailability: Dietary Reference Intakes and a future perspective

(2010) K Michael Hambidge   AMERICAN JOURNAL OF CLINICAL NUTRITION

Neuronatin Promotes Neural Lineage in ESCs via Ca2+ Signaling

(2010) Hsuan-Hwai Lin et al.   STEM CELLS

Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling

(2009) Stuart M Chambers et al.   NATURE BIOTECHNOLOGY

Neural tube defects in mice with reduced levels of inositol 1,3,4-trisphosphate 5/6-kinase

(2009) M. P. Wilson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Do mammals make all their own inositol hexakisphosphate?

(2008) Andrew J. Letcher et al.   BIOCHEMICAL JOURNAL

Effects of Disrupting Calcium Homeostasis on Neuronal Maturation: Early Inhibition and Later Recovery

(2008) Sarah L. Ringler et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY