Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335887 | PMC |
| http://dx.doi.org/10.1016/j.abd.2019.08.033 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Unlabelled: As the principal lipid transporter in the human brain, apolipoprotein E (ApoE) is tasked with the transport and protection of highly vulnerable lipids required to support and remodel neuronal membranes, in a process that is dependent on ApoE receptors. Human allele variants that encode proteins differing only in the number of cysteine (Cys)-to-arginine (Arg) exchanges (ApoE2 [2 Cys], ApoE3 [1 Cys], ApoE4 [0 Cys]) comprise the strongest genetic risk factor for sporadic Alzheimer's disease (AD); however, the molecular feature(s) and resultant mechanisms that underlie these isoform-dependent effects are unknown. One signature feature of Cys is the capacity to form disulfide (Cys-Cys) bridges, which are required to form disulfide bridge-linked dimers and multimers.
View Article and Find Full Text PDFRapidly progressive glomerulonephritis as an unusual type of renal involvement in sarcoidosis: a case report.
J Med Case Rep
January 2025
Transplant-Nephrology Department, Transplantation Center, University Hospital Martin, Kollarova 2, 03601, Martin, Slovakia.
Introduction: Sarcoidosis is a multisystem inflammatory disease of unknown etiology characterized by the formation of noncaseating epithelioid granulomas. Clinically significant renal involvement is rare in sarcoidosis. It most commonly manifests as chronic tubulointerstitial nephritis and nephrocalcinosis with nephrolithiasis.
View Article and Find Full Text PDFNovel Syndrome With Congenital Thumb Aplasia, Epilepsy, Cognitive Impairment, and Myopathy: A Case Report.
Cureus
December 2024
Neurology, Neurology and Neurophysiology Center, Vienna, AUT.
The combination of thumb aplasia, epilepsy, cognitive impairment, skeletal deformities, and myopathy has not been previously reported. The patient is a 22-year-old man with congenital bilateral thumb aplasia, developmental delay, and cognitive impairment who suffered a first tonic-clonic seizure at the age of 16 and was treated with valproic acid (VPA). At the age of 22, lamotrigine was added due to seizure recurrences and absences.
View Article and Find Full Text PDFA Rare Case of Locally Acquired Malaria in Lebanon: A Public Health Concern.
Cureus
December 2024
Clinical Pathology and Laboratory Department, Bekaa Hospital, Bekaa, LBN.
Malaria, a mosquito-borne disease caused by five plasmodium species, still has a life-threatening risk worldwide. Clinical manifestations can range from mild nonspecific symptoms to severe disease. In non-endemic regions, sporadic cases frequently pose significant challenges to health workers as delayed diagnosis can lead to serious consequences and even death.
View Article and Find Full Text PDFA novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.
Nephrol Dial Transplant
January 2025
Paediatric Nephrology, UZ Leuven and Department of Cellular and Molecular Physiology, KUL, Leuven, Belgium.
Background And Hypothesis: ATP6V1B1 encodes a subunit of the vacuolar H+-ATPase and pathogenic variants are associated with autosomal recessive distal renal tubular acidosis (dRTA) with deafness. Heterozygous variants predicted to affect a specific amino acid, Arg394, have been recurrently reported in dRTA but their significance has been unclear. We hypothesised that these variants are associated with a dominant disease mechanism.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!