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Literature DB >> 30488280

Synaptic metabolism and brain circuitries in inborn errors of metabolism.

Àngels García-Cazorla^1,2, Rafael Artuch³, Àlex Bayès^4,5.

Abstract

Entities: Disease

Keywords: Brain metabolism; Neurobiology; Neurometabolic disorders; Synapse; Synaptic transmission; Synaptic vesicle disorders; Synaptopathies

Mesh：

Year: 2018 PMID： 30488280 DOI： 10.1007/s10545-018-00252-y

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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References

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12 in total

Review 1. Neuroproteomics: understanding the molecular organization and complexity of the brain.

Authors: Alex Bayés; Seth G N Grant
Journal: Nat Rev Neurosci Date: 2009-09 Impact factor: 34.870

Review 2. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

Authors: Darius Ebrahimi-Fakhari; Afshin Saffari; Lara Wahlster; Jenny Lu; Susan Byrne; Georg F Hoffmann; Heinz Jungbluth; Mustafa Sahin
Journal: Brain Date: 2015-12-29 Impact factor: 13.501

3. An overview of inborn errors of complex lipid biosynthesis and remodelling.

Authors: Foudil Lamari; Fanny Mochel; Jean-Marie Saudubray
Journal: J Inherit Metab Dis Date: 2014-09-20 Impact factor: 4.982

4. Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.

Authors: Elisenda Cortès-Saladelafont; Noa Lipstein; Àngels García-Cazorla
Journal: J Inherit Metab Dis Date: 2018-07-18 Impact factor: 4.982

Review 5. Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.

Authors: Jean-Marie Saudubray; Àngels Garcia-Cazorla
Journal: Pediatr Clin North Am Date: 2018-04 Impact factor: 3.278

Review 6. Lipids and synaptic functions.

Authors: Fanny Mochel
Journal: J Inherit Metab Dis Date: 2018-06-04 Impact factor: 4.982

Synaptic metabolism and brain circuitries in inborn errors of metabolism.

Review 1. Neuroproteomics: understanding the molecular organization and complexity of the brain.

Review 2. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

3. An overview of inborn errors of complex lipid biosynthesis and remodelling.

4. Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.

Review 5. Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.

Review 6. Lipids and synaptic functions.

Review 7. Neurotransmitter release: the last millisecond in the life of a synaptic vesicle.

Review 8. Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders.

Review 9. Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.

Review 10. Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.