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

author

Daniel Medina-Cano

1990 -

Maha Zaki

2000 -

Patrick Nitschké

2000 -

Lydie Burglen

Joseph Gleeson

Adolfo Saiardi

Vincent Cantagrel

1978 -

Valentina Stanley

published in: Nature Communications

date of publication: 2020-11-30

language: English

Cites articles 60

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Title

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2020-05-14

Pontocerebellar Hypoplasia: a Pattern Recognition Approach

Christina T Rüsch
2020-06-18

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
2019-11-21

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

Yann Desfougères, Debabrata Laha, Adolfo Saiardi
2019-02-21

New options of cancer treatment employing InsP6
2019-12-18

PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus

Emily Parker, Ryan P McNabb, Jerome I Rotter, Yutao Liu
2018-03-28

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

Rizwan Yousaf, Saima Riazuddin, Thomas B. Friedman, Sheikh Riazuddin, Shaheen Khan
2018-06-15

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

Bwee Tien Poll-The
2018-07-01

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

Daniel Medina-Cano, Pierre Blanc, Philippe Lory, Vincent Cantagrel, Sylvain Hanein, Arnold Munnich
2018-10-12

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

Daniel Medina-Cano, Vincent Cantagrel
2018-08-31

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

Adolfo Saiardi
2018-02-01

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

Metodi D Metodiev, Arnold Munnich, Agnès Rötig
2018-11-06

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

Poul Henning Jensen
2018-01-17

Classification and molecular pathogenesis of NBIA syndromes

Valeria Tiranti, Ivano Di Meo
2018-03-23

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

Aaradhna Mathur, Mohammed Faruq
2017-08-11

STIM1 Regulates Somatic Ca2+ Signals and Intrinsic Firing Properties of Cerebellar Purkinje Neurons.

Changhyeon Ryu, Dong Cheol Jang, Dayoon Jung, Yong Gyu Kim, Hyun Geun Shim, David J Linden, Sang Jeong Kim
2016-05-04

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

Patrick Nitschké, Christine Bôle-Feysot, Vincent Cantagrel, Giulia Barcia, Karine Siquier-pernet, Laurence Colleaux, Nathalie Boddaert, Arnold Munnich, Nadia Bahi-Buisson, Melanie Parisot, Cécile Masson, Isabelle Desguerre
2016-06-09

Manganese and aging

Michael Aschner
2015-03-01

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

Miranda Wilson
2015-11-25

Extracellular Mipp1 Activity Confers Migratory Advantage to Epithelial Cells during Collective Migration
2015-12-17

Ca(2+) coding and decoding strategies for the specification of neural and renal precursor cells during development

Andrew L. Miller
2015-07-02

Editorial: Metals and neurodegeneration: restoring the balance

Anthony R. White, Peter J. Crouch
2015-01-01

Wilson's disease and other neurological copper disorders

Oliver Bandmann
2014-12-12

Mendelian disorders of PI metabolizing enzymes

Maria Antonietta De Matteis
2014-04-24

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

Ian M. Campbell, Claudia Gonzaga-Jauregui, Tomasz Gambin, Markus Hafner, Serkan Erdin, Tim Clausen, Pavel S. Morozov, Markus Glatzel, Siegfried Trattnig, Mustafa Ozen, Josef M Penninger, James R. Lupski, Richard A Gibbs, Donna Muzny, Shalini Jhangiani, Ender Karaca, Eric Boerwinkle
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Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms

Dario Finazzi, Sonia Levi
2013-06-01

Inositol pyrophosphates: between signalling and metabolism
2013-02-01

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

Maria A Brehm
2013-08-20

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

Thomas Bourgeron, Alexandra Benchoua, Richard Delorme
2013-08-02

Potential of phytase-mediated iron release from cereal-based foods: a quantitative view

Anne Strunge Meyer
2013-03-22

Complex actions of ionomycin in cultured cerebellar astrocytes affecting both calcium-induced calcium release and store-operated calcium entry

Helle S. Waagepetersen, Lasse K. Bak, Margit S Müller, Arne Schousboe, Linea F Obel
2013-07-17

Modulation of inositol polyphosphate levels regulates neuronal differentiation
2013-08-01

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder

Rasim Ozgur Rosti, Elizabeth Nickerson, Stacey Gabriel, Maha Zaki, Vincent Cantagrel, Emily Spencer, Joseph G Gleeson, Robert K Naviaux

Article - wd:Q103804117

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