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Structural Dynamics of Neutral Amino Acid Transporter SLC6A19 in Simple and Complex Lipid Bilayers.
J Cell Biochem
January 2025
Bioinformatics Division I Microbiology Division, ICMR-Regional Medical Research Centre, Bhubaneswar, Odisha, India.
B0AT1 (SLC6A19) is a major sodium-coupled neutral amino acid transporter that relies on angiotensin converting enzyme 2 (ACE2) or collectrin for membrane trafficking. Despite its significant role in disorders associated with amino acid metabolism, there is a deficit of comprehensive structure-function understanding of B0AT1 in lipid environment. Herein, we have employed molecular dynamics (MD) simulations to explore the architectural characteristics of B0AT1 in two distinct environments: a simplified POPC bilayer and a complex lipid system replicating the native membrane composition.
View Article and Find Full Text PDFAdult Neuropsychiatric Manifestation of Hartnup Disease With a Novel Variant: A Case Report.
Neurol Genet
December 2024
From the Department of Neurology (T.B., J.-J.R., F.T.B.), University Hospital Leipzig; Institute of Human Genetics (H.F., R.A.J.), University Hospital Leipzig; Department of Psychiatry (C.P., M.K.), University of Leipzig; Hospital for Psychiatry (M.K.), Psychotherapy und Psychosomatics, Klinikum Glauchau; Department of Pediatrics (S.B.), University Hospital Leipzig; and Centre for Rare Diseases (S.B., F.T.B.), University Hospital Leipzig, Germany.
Article Synopsis
- Inborn metabolic diseases in adults are often overlooked, particularly in routine diagnostics where suspicion is low.
- A young patient initially diagnosed with anxiety disorder was ultimately found to have Hartnup disease after a series of unsuccessful treatments and extensive testing, which included whole-exome sequencing.
- Following diagnosis, dietary changes and niacin supplementation led to significant improvements in the patient's condition, emphasizing the need for metabolic assessments in challenging neuropsychiatric cases.
The SLC6A15-SLC6A20 Neutral Amino Acid Transporter Subfamily: Functions, Diseases, and Their Therapeutic Relevance.
Pharmacol Rev
December 2023
Department of Physicochemical Drug Analysis, Faculty of Pharmacy, Jagiellonian University Medical College, Krakow, Poland
The neutral amino acid transporter subfamily that consists of six members, consecutively SLC6A15-SLC620, also called orphan transporters, represents membrane, sodium-dependent symporter proteins that belong to the family of solute carrier 6 (SLC6). Primarily, they mediate the transport of neutral amino acids from the extracellular milieu toward cell or storage vesicles utilizing an electric membrane potential as the driving force. Orphan transporters are widely distributed throughout the body, covering many systems; for instance, the central nervous, renal, or intestinal system, supplying cells into molecules used in biochemical, signaling, and building pathways afterward.
View Article and Find Full Text PDFNew aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19.
IBRO Neurosci Rep
June 2023
Schmidt College of Medicine, Florida Atlantic University (FAU), 777 Glades Road, Boca Raton, FL 33431, USA.
Hartnup disease is an autosomal recessive, metabolic disorder caused by mutations of the neutral amino acid transporter, SLC6A19/B0AT1. Reduced absorption in the intestine and kidney results in deficiencies in neutral amino acids and their down-stream metabolites, including niacin, associated with skin lesions and neurological symptoms. The effects on the nervous system such as ataxia have been related to systemic deficiencies of tryptophan (and other neutral amino acids) as no expression of the B0AT1 transporter was found in the brain.
View Article and Find Full Text PDFEpisodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Tremor Other Hyperkinet Mov (N Y)
April 2023
Beacon Hospital, Sandyford, Dublin 18, Ireland.
Background: Episodic ataxia (EA), characterized by recurrent attacks of cerebellar dysfunction, is the manifestation of a group of rare autosomal dominant inherited disorders. EA1 and EA2 are most frequently encountered, caused by mutations in and . EA3-8 are reported in rare families.
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