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Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report.
Biomedicines
December 2024
Diagnostic and Interventional Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
The glycosylphosphatidylinositol (GPI) is a glycol-lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and neural development. The PIG gene family is a group of genes involved in this pathway with six genes identified so far, and defects in these genes are associated with a rare inborn metabolic disorder manifesting with a spectrum of clinical phenotypes in newborns and children.
View Article and Find Full Text PDFIndirect Fortification of Traditional Nixtamalized Tortillas with Nixtamalized Corn Flours.
Foods
December 2024
Departamento de Nanotecnología, Centro de Física Aplicada y Tecnología Avanzada, Universidad Nacional Autónoma de México, Campus Juriquilla, Santiago de Querétaro C.P. 76230, Querétaro, Mexico.
Background: This work focused on the study of the indirect fortification of Mexican tortillas made from nixtamalized masa (NM) with nixtamalized commercial corn flour (NCC-F) fortified with Zn, Fe, vitamins and folic acid.
Methods: The chemical proximate values (CPV), ash content, mineral composition by inductively coupled plasma, in vitro protein digestibility (PD), protein digestibility-corrected amino acid score (PDCAAS), the total starch content, the resistant starch (RS) content in nixtamalized corn tortillas (NC-T) and nixtamalized commercial corn flour tortillas (NCCF-T) and the contribution of tortillas prepared with a mixture of NM and NCC-F (75:25 and 50:50, NM:NCC-F) to the recommended dietary intake (RDI) of minerals and vitamins were determined.
Results: No significant differences ( < 0.
Human iPSC-derived neural stem cells engraft and improve pathophysiology of MPS I mice.
Mol Ther Methods Clin Dev
December 2024
Research Institute, Children's Hospital of Orange County, Orange, CA, USA.
Mucopolysaccharidosis type I (MPS I) is a metabolic disorder characterized by a deficiency in α-l-iduronidase (IDUA), leading to impaired glycosaminoglycan degradation. Current approved treatments seek to restore IDUA levels via enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). The effectiveness of these treatment strategies in preventing neurodegeneration is limited due to the inability of ERT to penetrate the blood-brain barrier (BBB) and HSCT's limited CNS reconstitution of IDUA levels.
View Article and Find Full Text PDFParatesticular/inguinal SMARCB1/INI1 deficient carcinomas with yolk sac tumour-like differentiation are aggressive somatic malignancies.
Histopathology
January 2025
Department of Diagnostic and Molecular Pathology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Aims: Extragonadal yolk sac tumour (YST) is rare, and may present a diagnostic challenge. YST differentiation was recently reported in some somatically derived tumours in the sinonasal location and in the female genital tract, together with a SMARCB1/INI1 loss. We report two paratesticular/inguinal tumours with striking morphological and immunohistochemical similarities with YST, further expanding the spectrum of extragonadal tumours with YST-like morphology and SMARCB1/INI1 loss.
View Article and Find Full Text PDFNovel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.
J Inherit Metab Dis
January 2025
Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness. To allow for trial development, increased knowledge of the clinical phenotype and current therapeutic outcomes is required.
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