The expanding spectrum of neurological disorders of phosphoinositide metabolism

Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model

(2019) Anaïs Fongy et al.   Scientific Reports

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

(2019) Valentina M. Lionello et al.   Science Translational Medicine

New FIG4 gene mutations causing aggressive ALS

(2018) C. Bertolin et al.   EUROPEAN JOURNAL OF NEUROLOGY

Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice

(2018) Hichem Tasfaout et al.   MOLECULAR THERAPY

The MTM1–UBQLN2–HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle

(2018) Christos Gavriilidis et al.   NATURE CELL BIOLOGY

Updating the classification of inherited neuropathies

(2018) Laurent Magy et al.   NEUROLOGY

Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations

(2018) Dominga Fasano et al.   Cell Death & Disease

Schwann-Cell-Specific Deletion of Phosphatidylinositol 4-Kinase Alpha Causes Aberrant Myelination

(2018) Alejandro Alvarez-Prats et al.   Cell Reports

The inositol 5-phosphatase INPP5K participates in the fine control of ER organization

(2018) Rui Dong et al.   JOURNAL OF CELL BIOLOGY

Structural Basis for Regulation of Phosphoinositide Kinases and Their Involvement in Human Disease

(2018) John E. Burke   MOLECULAR CELL

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

(2018) Quitterie Venot et al.   NATURE

Efficient proximity labeling in living cells and organisms with TurboID

(2018) Tess C Branon et al.   NATURE BIOTECHNOLOGY

OCRL Deficiency Impairs Endolysosomal Function in a Humanized Mouse Model for Lowe Syndrome and Dent Disease

(2018) Beatrice Paola Festa et al.   HUMAN MOLECULAR GENETICS

Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease

(2018) Mo Zhao et al.   Neurotherapeutics

InterPro in 2019: improving coverage, classification and access to protein sequence annotations

(2018) Alex L Mitchell et al.   NUCLEIC ACIDS RESEARCH

Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy

(2018) Suzie Buono et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Yunis-Varón syndrome caused by biallelic VAC14 mutations

(2017) Matthew A Lines et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy

(2017) Matthieu A. Raess et al.   HUMAN MOLECULAR GENETICS

Plasma membrane phosphatidylinositol 4-phosphate and 4,5-bisphosphate determine the distribution and function of K-Ras4B but not H-Ras proteins

(2017) Gergő Gulyás et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PtdIns3P controls mTORC1 signaling through lysosomal positioning

(2017) Zhi Hong et al.   JOURNAL OF CELL BIOLOGY

Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy

(2017) Julia Hofhuis et al.   JOURNAL OF CELL SCIENCE

Loss of OCRL increases ciliary PI(4,5)P2in Lowe oculocerebrorenal syndrome

(2017) Philipp P. Prosseda et al.   JOURNAL OF CELL SCIENCE

Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation

(2017) Belinda S. Cowling et al.   JOURNAL OF CLINICAL INVESTIGATION

ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation

(2017) Jing-Yang Wang et al.   NEUROGENETICS

A natural history study of X-linked myotubular myopathy

(2017) Kimberly Amburgey et al.   NEUROLOGY

A compartmentalized phosphoinositide signaling axis at cilia is regulated by INPP5E to maintain cilia and promote Sonic Hedgehog medulloblastoma

(2017) S E Conduit et al.   ONCOGENE

Rapid and tunable method to temporally control gene editing based on conditional Cas9 stabilization

(2017) Serif Senturk et al.   Nature Communications

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

(2016) Guy M. Lenk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The PI3K/AKT Pathway as a Target for Cancer Treatment

(2016) Ingrid A. Mayer et al.   Annual Review of Medicine

Niacin‐mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination

(2016) Alessandra Bolino et al.   EMBO Molecular Medicine

Inpp5e suppresses polycystic kidney disease via inhibition of PI3K/Akt-dependent mTORC1 signaling

(2016) Sandra Hakim et al.   HUMAN MOLECULAR GENETICS

Rapamycin-induced oligomer formation system of FRB–FKBP fusion proteins

(2016) Tomonao Inobe et al.   JOURNAL OF BIOSCIENCE AND BIOENGINEERING

INPP5E regulates phosphoinositide-dependent cilia transition zone function

(2016) Jennifer M. Dyson et al.   JOURNAL OF CELL BIOLOGY

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models

(2016) Nesrin Sabha et al.   JOURNAL OF CLINICAL INVESTIGATION

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

(2016) Michael W. Lawlor et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

A phosphoinositide conversion mechanism for exit from endosomes

(2016) Katharina Ketel et al.   NATURE

A molecular mechanism to regulate lysosome motility for lysosome positioning and tubulation

(2016) Xinran Li et al.   NATURE CELL BIOLOGY

A draft map of the mouse pluripotent stem cell spatial proteome

(2016) Andy Christoforou et al.   Nature Communications

Phosphatidylinositol phosphate kinase PIPKIγ and phosphatase INPP5E coordinate initiation of ciliogenesis

(2016) Qingwen Xu et al.   Nature Communications

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases

(2016) Cinzia Bragato et al.   Scientific Reports

Resolving rates of mutation in the brain using single-neuron genomics

(2016) Gilad D Evrony et al.   eLife

Global, quantitative and dynamic mapping of protein subcellular localization

(2016) Daniel N Itzhak et al.   eLife

Mendelian disorders of PI metabolizing enzymes

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

Characterization of PROPPIN-Phosphoinositide Binding and Role of Loop 6CD in PROPPIN-Membrane Binding

(2015) Ricarda A. Busse et al.   BIOPHYSICAL JOURNAL

Modulation of Ciliary Phosphoinositide Content Regulates Trafficking and Sonic Hedgehog Signaling Output

(2015) Marcelo Chávez et al.   DEVELOPMENTAL CELL

Phosphoinositides Regulate Ciliary Protein Trafficking to Modulate Hedgehog Signaling

(2015) Francesc R. Garcia-Gonzalo et al.   DEVELOPMENTAL CELL

Type I phosphatidylinositol 4-phosphate 5-kinase homo- and heterodimerization determines its membrane localization and activity

(2015) Rosa Ana Lacalle et al.   FASEB JOURNAL

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

(2015) Alistair T. Pagnamenta et al.   HUMAN MOLECULAR GENETICS

Mechanism for phosphoinositide selectivity and activation of TRPV1 ion channels

(2015) Carmen A. Ufret-Vincenty et al.   JOURNAL OF GENERAL PHYSIOLOGY

Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells

(2015) J. Zou et al.   JOURNAL OF NEUROSCIENCE

Repeated ER–endosome contacts promote endosome translocation and neurite outgrowth

(2015) Camilla Raiborg et al.   NATURE

The Lowe Syndrome Protein OCRL1 Is Required for Endocytosis in the Zebrafish Pronephric Tubule

(2015) Francesca Oltrabella et al.   PLoS Genetics

SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

(2014) Pankaj B. Agrawal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Conditional Knockout of Pik3c3 Causes a Murine Muscular Dystrophy

(2014) Aaron Reifler et al.   AMERICAN JOURNAL OF PATHOLOGY

Inositol lipid phosphatases in membrane trafficking and human disease

(2014) Peter G. Billcliff et al.   BIOCHEMICAL JOURNAL

Distinct Properties of the Two Isoforms of CDP-Diacylglycerol Synthase

(2014) Kenneth D’Souza et al.   BIOCHEMISTRY

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy

(2014) Ilaria Vaccari et al.   HUMAN MOLECULAR GENETICS

Pharmacological and Genetic Targeting of the PI4KA Enzyme Reveals Its Important Role in Maintaining Plasma Membrane Phosphatidylinositol 4-Phosphate and Phosphatidylinositol 4,5-Bisphosphate Levels

(2014) Naveen Bojjireddy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PI4KIII  is required for cortical integrity and cell polarity during Drosophila oogenesis

(2014) J. Tan et al.   JOURNAL OF CELL SCIENCE

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

(2014) Belinda S. Cowling et al.   JOURNAL OF CLINICAL INVESTIGATION

Hereditary motor and sensory neuropathies or Charcot–Marie–Tooth diseases: An update

(2014) Meriem Tazir et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Fractionation profiling: a fast and versatile approach for mapping vesicle proteomes and protein–protein interactions

(2014) Georg H. H. Borner et al.   MOLECULAR BIOLOGY OF THE CELL

PI3K and cancer: lessons, challenges and opportunities

(2014) David A. Fruman et al.   NATURE REVIEWS DRUG DISCOVERY

Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system

(2014) Zhi-Jun Liu et al.   NEUROBIOLOGY OF AGING

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

(2014) S. Baulac et al.   NEUROLOGY

Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy

(2014) M. K. Childers et al.   Science Translational Medicine

Phosphatidylinositol 5-phosphate regulates invasion through binding and activation of Tiam1

(2014) Julien Viaud et al.   Nature Communications

Pathogenic Mechanisms in Centronuclear Myopathies

(2014) Heinz Jungbluth et al.   Frontiers in Aging Neuroscience

Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

(2014) Vincent Timmerman et al.   Genes

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

(2014) Benoît Renvoisé et al.   Annals of Clinical and Translational Neurology

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

(2013) Philippe M. Campeau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

(2013) Chiara Vantaggiato et al.   BRAIN

The Second Messenger Phosphatidylinositol-5-Phosphate Facilitates Antiviral Innate Immune Signaling

(2013) Takumi Kawasaki et al.   Cell Host & Microbe

The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish

(2013) E. M. Gibbs et al.   Disease Models & Mechanisms

The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies

(2013) Barbara Royer et al.   EMBO REPORTS

The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression

(2013) Aubree A. Ng et al.   HUMAN MOLECULAR GENETICS

Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

(2013) Marialuisa Quadri et al.   HUMAN MUTATION

The Sac1 Domain ofSYNJ1Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

(2013) Catharine E. Krebs et al.   HUMAN MUTATION

Novel FIG4 mutations in Yunis–Varon syndrome

(2013) Junya Nakajima et al.   JOURNAL OF HUMAN GENETICS

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3

(2013) K. Nakhro et al.   NEUROLOGY

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

(2013) O. Ceyhan-Birsoy et al.   NEUROLOGY

Phosphoinositides: Tiny Lipids With Giant Impact on Cell Regulation

(2013) Tamas Balla   PHYSIOLOGICAL REVIEWS

Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe

(2013) Na Luo et al.   PLoS One

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

(2013) Mukhran Khundadze et al.   PLoS Genetics

The FIG4 gene does not play a major role in causing ALS in Italian patients

(2013) Simonetta Verdiani et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

(2012) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores

(2012) Karen Majczenko et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

(2012) Kyle C. Kurek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional dissociation between PIKfyve-synthesized PtdIns5P and PtdIns(3,5)P2 by means of the PIKfyve inhibitor YM201636

(2012) Diego Sbrissa et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Congenital Myopathies: An Update

(2012) Jessica R. Nance et al.   Current Neurology and Neuroscience Reports

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models

(2012) J. J. Dowling et al.   Disease Models & Mechanisms

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

(2012) Olga S Koutsopoulos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

(2012) Jack-Christophe Cossec et al.   HUMAN MOLECULAR GENETICS

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome

(2012) Na Luo et al.   HUMAN MOLECULAR GENETICS

Defective Autophagy and mTORC1 Signaling in Myotubularin Null Mice

(2012) K. M. Fetalvero et al.   MOLECULAR AND CELLULAR BIOLOGY

LPIAT1 regulates arachidonic acid content in phosphatidylinositol and is required for cortical lamination in mice

(2012) Hyeon-Cheol Lee et al.   MOLECULAR BIOLOGY OF THE CELL

Phosphatidylinositol 4-Kinases and PI4P Metabolism in the Nervous System: Roles in Psychiatric and Neurological Diseases

(2012) Emma L. Clayton et al.   MOLECULAR NEUROBIOLOGY

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

(2012) Marjorie J Lindhurst et al.   NATURE GENETICS

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

Endogenous viruses: insights into viral evolution and impact on host biology

(2012) Cédric Feschotte et al.   NATURE REVIEWS GENETICS

In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P

(2012) S. N. Zolov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Synaptic Vesicle Endocytosis

(2012) Y. Saheki et al.   Cold Spring Harbor Perspectives in Biology

Phosphatase-Dead Myotubularin Ameliorates X-Linked Centronuclear Myopathy Phenotypes in Mice

(2012) Leonela Amoasii et al.   PLoS Genetics

Brief Report: A phase IIa, randomized, double-blind, placebo-controlled trial of apilimod mesylate, an interleukin-12/interleukin-23 inhibitor, in patients with rheumatoid arthritis

(2011) Sarah Krausz et al.   ARTHRITIS AND RHEUMATISM

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4

(2011) Garth Nicholson et al.   BRAIN

OCRL controls trafficking through early endosomes via PtdIns4,5P2-dependent regulation of endosomal actin

(2011) Mariella Vicinanza et al.   EMBO JOURNAL

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype

(2011) Christopher R. Pierson et al.   HUMAN MOLECULAR GENETICS

Impaired neural development in a zebrafish model for Lowe syndrome

(2011) Irene Barinaga-Rementeria Ramirez et al.   HUMAN MOLECULAR GENETICS

Role of Rab GTPases in Membrane Traffic and Cell Physiology

(2011) Alex H. Hutagalung et al.   PHYSIOLOGICAL REVIEWS

Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies

(2011) Ilaria Vaccari et al.   PLoS Genetics

Phosphoinositide Regulation of Integrin Trafficking Required for Muscle Attachment and Maintenance

(2011) Inês Ribeiro et al.   PLoS Genetics

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

(2010) Manju A. Kurian et al.   BRAIN

Zebrafish MTMR14 is required for excitation–contraction coupling, developmental motor function and the regulation of autophagy

(2010) J.J. Dowling et al.   HUMAN MOLECULAR GENETICS

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

(2010) Haifa Hichri et al.   HUMAN MUTATION

DrosophilaMtm and class II PI3K coregulate a PI(3)P pool with cortical and endolysosomal functions

(2010) Michaella Velichkova et al.   JOURNAL OF CELL BIOLOGY

Mouse Model for Lowe Syndrome/Dent Disease 2 Renal Tubulopathy

(2010) S. P. Bothwell et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

X-inactivation analysis of embryonic lethality in Ocrl wt/−;Inpp5b −/− mice

(2010) David J. Bernard et al.   MAMMALIAN GENOME

Translation of the phosphoinositide code by PI effectors

(2010) Tatiana G Kutateladze   Nature Chemical Biology

FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS

(2010) Ching-Paio Tsai et al.   NEUROBIOLOGY OF AGING

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

(2010) A. H. Beggs et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Acute manipulation of Golgi phosphoinositides to assess their importance in cellular trafficking and signaling

(2010) Z. Szentpetery et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

(2009) Clement Y. Chow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of Lipid Binding Specificities of Dysferlin C2 Domains Reveals Novel Interactions with Phosphoinositides†

(2009) Christian Therrien et al.   BIOCHEMISTRY

Disruption of Striated Preferentially Expressed Gene Locus Leads to Dilated Cardiomyopathy in Mice

(2009) Xiaoli Liu et al.   CIRCULATION

Great Expectations for PIP: Phosphoinositides as Regulators of Signaling During Development and Disease

(2009) Lara C. Skwarek et al.   DEVELOPMENTAL CELL

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

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

The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling

(2009) Philipp Berger et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Dlg1, Sec8, and Mtmr2 Regulate Membrane Homeostasis in Schwann Cell Myelination

(2009) A. Bolis et al.   JOURNAL OF NEUROSCIENCE

Dent-2 Disease: A Mild Variant of Lowe Syndrome

(2009) Arend Bökenkamp et al.   JOURNAL OF PEDIATRICS

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

(2009) Monique Jacoby et al.   NATURE GENETICS

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

(2009) Stephanie L Bielas et al.   NATURE GENETICS

OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability

(2009) Antony E. Shrimpton et al.   NEPHRON PHYSIOLOGY

Mutations in Phosphoinositide Metabolizing Enzymes and Human Disease

(2009) Heather J. McCrea et al.   PHYSIOLOGY

Loss of phosphatidylinositol 4-kinase 2α activity causes late onset degeneration of spinal cord axons

(2009) J. Paul Simons et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mammalian phosphoinositide kinases and phosphatases

(2009) Takehiko Sasaki et al.   PROGRESS IN LIPID RESEARCH

Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy

(2009) James J. Dowling et al.   PLoS Genetics

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

(2008) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P2 in yeast and mouse

(2008) Natsuko Jin et al.   EMBO JOURNAL

PTEN hamartoma tumor syndromes

(2008) Gideon M Blumenthal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

(2008) Anna Buj-Bello et al.   HUMAN MOLECULAR GENETICS

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

(2008) Bettina Ebbing et al.   HUMAN MOLECULAR GENETICS

Generalized tetracycline induced Cre recombinase expression through the ROSA26 locus of recombinant mice

(2008) Cristina M. Bäckman et al.   JOURNAL OF NEUROSCIENCE METHODS

Sequential Actions of Myotubularin Lipid Phosphatases Regulate Endosomal PI(3)P and Growth Factor Receptor Trafficking

(2008) Canhong Cao et al.   MOLECULAR BIOLOGY OF THE CELL

Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

(2008) Antonina Roll-Mecak et al.   NATURE

Membrane recognition by phospholipid-binding domains

(2008) Mark A. Lemmon   NATURE REVIEWS MOLECULAR CELL BIOLOGY

PI3K pathway alterations in cancer: variations on a theme

(2008) T L Yuan et al.   ONCOGENE

Centronuclear (myotubular) myopathy

(2008) Heinz Jungbluth et al.   Orphanet Journal of Rare Diseases

Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice

(2008) F. L. Robinson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Caenorhabditis elegans mboa-7, a Member of the MBOAT Family, Is Required for Selective Incorporation of Polyunsaturated Fatty Acids into Phosphatidylinositol

(2007) Hyeon-Cheol Lee et al.   MOLECULAR BIOLOGY OF THE CELL