Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology

A proposed nosology of inborn errors of metabolism

(2018) Carlos R. Ferreira et al.   GENETICS IN MEDICINE

Think big — think omics

(2018) Ron A. Wevers et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The role of the clinician in the multi-omics era: are you ready?

(2018) Clara D. M. van Karnebeek et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases

(2018) Stefan Kölker   JOURNAL OF INHERITED METABOLIC DISEASE

Understanding the diversity of membrane lipid composition

(2018) Takeshi Harayama et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Inborn Errors of Metabolism Overview

(2018) Jean-Marie Saudubray et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology

(2017) Ann E. Frazier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lack of appropriate stoichiometry: Strong evidence against an energetically important astrocyte-neuron lactate shuttle in brain

(2017) Gerald A. Dienel   JOURNAL OF NEUROSCIENCE RESEARCH

ER stress and the unfolded protein response in neurodegeneration

(2017) Claudio Hetz et al.   Nature Reviews Neurology

Compartmentalized Signaling in Neurons: From Cell Biology to Neuroscience

(2017) Marco Terenzio et al.   NEURON

Astrocytes locally translate transcripts in their peripheral processes

(2017) Kristina Sakers et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ribosomopathies: There’s strength in numbers

(2017) Eric W. Mills et al.   SCIENCE

Monitoring ATP dynamics in electrically active white matter tracts

(2017) Andrea Trevisiol et al.   eLife

The Role of Co-chaperones in Synaptic Proteostasis and Neurodegenerative Disease

(2017) Erica L. Gorenberg et al.   Frontiers in Neuroscience

Translation in astrocyte distal processes sets molecular heterogeneity at the gliovascular interface

(2017) Anne- Cécile Boulay et al.   Cell Discovery

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

(2016) Laura S. Kremer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

(2016) Dora C. Tărlungeanu et al.   CELL

KIF5A de novomutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy

(2016) M. Rydzanicz et al.   CLINICAL GENETICS

Membrane traffic during axon development

(2016) José Wojnacki et al.   Developmental Neurobiology

mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism

(2016) Kara R. Vogel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

(2016) Elena Martín-Hernández et al.   NEUROGENETICS

Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission

(2016) E. Cortès-Saladelafont et al.   Seminars in Pediatric Neurology

Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex

(2016) Darius Ebrahimi-Fakhari et al.   Cell Reports

Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects

(2016) Ainhoa Martínez-Pizarro et al.   PLoS One

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

(2015) Julien H. Park et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

(2015) Kym M. Boycott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

(2015) Jennifer Hirst et al.   HUMAN MOLECULAR GENETICS

Quo vadis: the re-definition of “inborn metabolic diseases”

(2015) Eva Morava et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

(2015) Alicia Guemez-Gamboa et al.   NATURE GENETICS

Extracellular and Intracellular Signaling for Neuronal Polarity

(2015) Takashi Namba et al.   PHYSIOLOGICAL REVIEWS

Regulation of Axonal Transport by Protein Kinases

(2015) Katherine L. Gibbs et al.   TRENDS IN BIOCHEMICAL SCIENCES

Schwann Cell Myelination

(2015) James L. Salzer   Cold Spring Harbor Perspectives in Biology

Myelin damage and repair in pathologic CNS: challenges and prospects

(2015) Arsalan Alizadeh et al.   Frontiers in Molecular Neuroscience

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

(2014) Rocio Acuna-Hidalgo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An overview of inborn errors of complex lipid biosynthesis and remodelling

(2014) Foudil Lamari et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

(2014) Peter M. van Hasselt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

(2014) Sylvia Stockler et al.   Orphanet Journal of Rare Diseases

Vesicular Glycolysis Provides On-Board Energy for Fast Axonal Transport

(2013) Diana Zala et al.   CELL

To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations

(2013) Rachel C Wallen et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

(2013) Elizabeth K. Ruzzo et al.   NEURON

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

(2012) Danit Oz-Levi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

(2012) G. Novarino et al.   SCIENCE

Astrocyte-Neuron Lactate Transport Is Required for Long-Term Memory Formation

(2011) Akinobu Suzuki et al.   CELL

Mendelian Disorders of Membrane Trafficking

(2011) Maria Antonietta De Matteis et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

(2010) Paulien Smits et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism

(2009) Robert Steinfeld et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sphingosine Facilitates SNARE Complex Assembly and Activates Synaptic Vesicle Exocytosis

(2009) Frédéric Darios et al.   NEURON

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

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

(2008) Christian Beetz et al.   BRAIN

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization

(2008) Peter Bauer et al.   NEUROGENETICS