pH‐mediated activation of the lysosomal arginine sensor SLC38A9
FEBS Letters, EarlyView.Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley +1 more source
Familial myelodysplastic syndromes: a review of the literature
Haematologica, 2011 Familial cases of myelodysplastic syndromes are rare, but are immensely valuable for the investigation of the molecular pathogenesis of myelodysplasia in general.
Elena Liew, Carolyn Owen
doaj +1 more source
The human gut microbiome across the life course
FEBS Letters, EarlyView.Despite significant individual variation and continuous change throughout life, the human gut microbiome follows some life stage‐specific trends. This article provides a brief overview of how gut microbiome composition shifts across different phases of life. Created in BioRender. Özkurt, E. (2026) https://BioRender.com/8q4nrnc.
Alise J. Ponsero +4 more
wiley +1 more source
Metabolomic profiling of Wilson disease, an inherited disorder of copper metabolism, and diseases with similar symptoms but normal copper metabolism. [PDF]
Orphanet J Rare Dis, 2023 Qiu Y, Su M, Xiao X, Zhou D, Xie L.
europepmc +1 more source
Genetics of inherited primary arrhythmia disorders
, 2015 Danna A Spears, Michael H Gollob Division of Cardiology – Electrophysiology, University Health Network, Toronto General Hospital, Toronto, ON, Canada Abstract: A sudden unexplained death is felt to be due to a primary arrhythmic disorder when no ...
Gollob MH, Spears DA
core
Molecular basis and functional characterization of human 3-methylcrotonyl-CoA carboxylase deficiency [PDF]
, 2009 3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is a rare disorder of leucine catabolism inherited as an autosomal recessive trait. The phenotypic expression of the disease is highly variable, ranging from neonatal onset with severe neurological ...
Dantas, Maria Fernanda
core +1 more source
Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations
FEBS Letters, EarlyView.The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas +6 more
wiley +1 more source
Diagnosis of Inherited Platelet Disorders: Clinical Evaluation and Functional and Molecular Assays
BiomoleculesInherited platelet disorders (IPDs) are a group of rare conditions affecting platelet number, function, or both. Clinical manifestations vary widely, from asymptomatic cases to patients with severe bleeding, syndromic features, or early-onset blood ...
Ana Sánchez-Fuentes +3 more
doaj +1 more source
FACTOR-X DEFICIENCY: A RARE DISORDER TO BE LOOKED FOR IN CASES OF CONGENITAL BLEEDING TENDENCY [PDF]
Khyber Medical University Journal, 2018 Factor X deficiency is a rare, autosomal recessive disorder that involves the coagulation cascade. People with this disorder present with a myriad of early life bleeding complications.
Fatima Ayaz +2 more
doaj
Dyschromatosis universalis hereditaria: A rare case report
Journal of Mahatma Gandhi Institute of Medical Sciences, 2013 Dyschromatosis universalis hereditaria is an autosomal dominant disorder but may be recessive or sporadically inherited disorder, infrequently occurring genodermatosis with peculiar pigmentary changes, consisting of varying sized, intermingled ...
Esha Bisne, Sonia Jain, V B Shivkumar
doaj +1 more source