The genetics of kidney stone disease and nephrocalcinosis

P Singh, PC Harris, DJ Sas, JC Lieske - Nature Reviews Nephrology, 2022 - nature.com
Kidney stones (also known as urinary stones or nephrolithiasis) are highly prevalent,
affecting approximately 10% of adults worldwide, and the incidence of stone disease is …

The SLC3 and SLC7 families of amino acid transporters

D Fotiadis, Y Kanai, M Palacín - Molecular aspects of medicine, 2013 - Elsevier
Amino acids are necessary for all living cells and organisms. Specialized transporters
mediate the transfer of amino acids across plasma membranes. Malfunction of these …

Oxytosis/ferroptosis—(Re-) emerging roles for oxidative stress-dependent non-apoptotic cell death in diseases of the central nervous system

J Lewerenz, G Ates, A Methner, M Conrad… - Frontiers in …, 2018 - frontiersin.org
Although nerve cell death is the hallmark of many neurological diseases, the processes
underlying this death are still poorly defined. However, there is a general consensus that …

[HTML][HTML] Glutamine transporters in mammalian cells and their functions in physiology and cancer

YD Bhutia, V Ganapathy - Biochimica et Biophysica Acta (BBA)-Molecular …, 2016 - Elsevier
The SLC (solute carrier)-type transporters (~ 400 in number) in mammalian cells consist of
52 distinct gene families, grouped solely based on the amino acid sequence (primary …

Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors

RN Vuille-dit-Bille, SM Camargo, L Emmenegger… - Amino acids, 2015 - Springer
Sodium-dependent neutral amino acid transporter B 0 AT1 (SLC6A19) and imino acid
(proline) transporter SIT1 (SLC6A20) are expressed at the luminal membrane of small …

Kidney stones 2012: pathogenesis, diagnosis, and management

K Sakhaee, NM Maalouf, B Sinnott - The Journal of Clinical …, 2012 - academic.oup.com
Context: The pathogenetic mechanisms of kidney stone formation are complex and involve
both metabolic and environmental risk factors. Over the past decade, major advances have …

Hereditary causes of kidney stones and chronic kidney disease

VO Edvardsson, DS Goldfarb, JC Lieske… - Pediatric …, 2013 - Springer
Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial
hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and primary …

[PDF][PDF] Amino acid transport across the mammalian intestine

S Bröer, SJ Fairweather - Compr Physiol, 2018 - researchgate.net
The small intestine mediates the absorption of amino acids after ingestion of protein and
sustains the supply of amino acids to all tissues. The small intestine is an important …

Cryo-EM structure of the human L-type amino acid transporter 1 in complex with glycoprotein CD98hc

Y Lee, P Wiriyasermkul, C Jin, L Quan… - Nature structural & …, 2019 - nature.com
The L-type amino acid transporter 1 (LAT1 or SLC7A5) transports large neutral amino acids
across the membrane and is crucial for brain drug delivery and tumor growth. LAT1 forms a …

The role of amino acid transporters in inherited and acquired diseases

S Broeer, M Palacin - Biochemical Journal, 2011 - portlandpress.com
Amino acids are essential building blocks of all mammalian cells. In addition to their role in
protein synthesis, amino acids play an important role as energy fuels, precursors for a …