Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child
Published 2016 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child
Authors
Keywords
Cerebral Palsy, Lipoic Acid, Pantothenic Acid, SLC5A6 Gene, Lipoate
Journal
HUMAN GENETICS
Volume 136, Issue 2, Pages 253-261
Publisher
Springer Nature
Online
2016-11-30
DOI
10.1007/s00439-016-1751-x
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
- Regulation of immunological and inflammatory functions by biotin
- (2015) Toshinobu Kuroishi CANADIAN JOURNAL OF PHYSIOLOGY AND PHARMACOLOGY
- Clinical application of whole-exome sequencing across clinical indications
- (2015) Kyle Retterer et al. GENETICS IN MEDICINE
- Interaction of α-Lipoic Acid with the Human Na+/Multivitamin Transporter (hSMVT)
- (2015) Britta Zehnpfennig et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder
- (2015) Jessie C. Jacobsen et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Major involvement of Na+-dependent multivitamin transporter (SLC5A6/SMVT) in uptake of biotin and pantothenic acid by human brain capillary endothelial cells
- (2015) Yasuo Uchida et al. JOURNAL OF NEUROCHEMISTRY
- Emerging role of alpha-lipoic acid in the prevention and treatment of bone loss
- (2015) J. L. Roberts et al. NUTRITION REVIEWS
- Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
- (2014) Julien Thevenon et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Coenzyme A biosynthetic machinery in mammalian cells
- (2014) David Lopez Martinez et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Effects of Lipoic Acid on Immune Function, the Antioxidant Defense System, and Inflammation-Related Genes Expression of Broiler Chickens Fed Aflatoxin Contaminated Diets
- (2014) Yan Li et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD)
- (2013) Martha Spilioti et al. Frontiers in Human Neuroscience
- Conditional knockout of the Slc5a6 gene in mouse intestine impairs biotin absorption
- (2012) Abhisek Ghosal et al. AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
- Immunomodulatory effect of DL-α-lipoic acid in aged rats
- (2011) Arivazhagan Palaniyappan et al. EXPERIMENTAL GERONTOLOGY
- Membrane targeting and intracellular trafficking of the human sodium-dependent multivitamin transporter in polarized epithelial cells
- (2009) Veedamali S. Subramanian et al. AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
- Lipoic acid attenuates high fat diet-induced chronic oxidative stress and immunosuppression in mice jejunum: A microarray analysis
- (2009) Jue Cui et al. CELLULAR IMMUNOLOGY
- Biotin deficiency in mice is associated with decreased serum availability of insulin-like growth factor-I
- (2009) Armida Báez-Saldaña et al. EUROPEAN JOURNAL OF NUTRITION
- Mutations in a Thiamine-Transporter Gene and Wernicke's-like Encephalopathy
- (2009) Satoshi Kono et al. NEW ENGLAND JOURNAL OF MEDICINE
- Effects of biotin deficiency on embryonic development in mice
- (2008) Toshiaki Watanabe et al. NUTRITION
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started