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Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation
Int J Dev Neurosci. 2023 Jun 20. doi: 10.1002/jdn.10283. Online ahead of print.ABSTRACTMaple syrup urine disease (MSUD) is caused by a deficiency in the activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex, promoting the accumulation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine, as well as their respective α-keto acids. MSUD is an autosomal recessive hereditary metabolic disorder characterized by ketoacidosis, ataxia, coma, and mental and psychomotor retardation. The mechanisms involved in the brain damage caused by MSUD are not fully understood. Early diagnosis and treatment...
Source: International Journal of Developmental Neuroscience - June 20, 2023 Category: Neuroscience Authors: Marion Deon Gilian Guerreiro Julia Girardi Graziela Ribas Carmen Regla Vargas Source Type: research

A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome
In this study, we presented the clinical and molecular findings of two different patients with MS and MSS as a rare cause of intellectual disability and reported two novel variants in the NFIX gene. NFIX gene sequencing revealed a novel heterozygous c.1287delC (p.G430Vfs*34) mutation in patient 1 whose clinical diagnosis was compatible with Marshall-Smith syndrome, and in the second patient, physical features consistent with Malan syndrome, was detected a heterozygous one nucleotide duplication, c.303dupC (pCys102LeufsTer17).PMID:37336770 | DOI:10.1002/jdn.10280 (Source: International Journal of Developmental Neuroscience)
Source: International Journal of Developmental Neuroscience - June 19, 2023 Category: Neuroscience Authors: Ceren Y ılmaz Uzman Semra G ürsoy Filiz Hazan Source Type: research

Delayed in sensorimotor reflex ontogeny, slow physical growth, and impairments in behaviour as well as dopaminergic neuronal death in mice offspring following prenatally rotenone administration
This study could provide a great contribution to researchers to find out the molecular mechanism and participating signalling pathway behind these outcomes.PMID:37337287 | DOI:10.1002/jdn.10282 (Source: International Journal of Developmental Neuroscience)
Source: International Journal of Developmental Neuroscience - June 19, 2023 Category: Neuroscience Authors: Juli Jain Whidul Hasan Deepali Jat Pronit Biswas Rajesh Singh Yadav Source Type: research

The effects of Spirulina platensis on behavior in adolescent rats fed a high-fat diet
In conclusion, SP supplementation in adolescence period might positively affect chronic high fat-induced anxiety-like and depressive-like behavior by partially affecting brain leptin levels and without affecting Sirtuin-1 levels.PMID:37315948 | DOI:10.1002/jdn.10281 (Source: International Journal of Developmental Neuroscience)
Source: International Journal of Developmental Neuroscience - June 14, 2023 Category: Neuroscience Authors: Gizem Usluel Burcu Acikgoz Bahar Dalkiran Amac Kiray Ilkay Aksu Muge Kiray Source Type: research