The absence of Parkin in hTau mice leads to synaptic mitochondrial dysfunction, alterations to the synaptic proteome, and increased phosphorylated tau in the Hippocampus.

Amongst the major histopathological hallmarks in Alzheimer's disease are intracellular neurofibrillary tangles consisting of hyperphosphorylated and aggregated Tau, synaptic dysfunction, and synapse loss. We have previously shown evidence of synaptic mitochondrial dysfunction in a mouse model of Tauopathy that overexpresses human Tau (hTau). Here, we questioned whether the levels or activity of Parkin, an E3 ubiquitin ligase involved in mitophagy, can influence Tau-induced synaptic mitochondrial dysfunction.

Correction: Donnelly et al. A Case of -Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection. 2024, , 7.

In the original publication [...

T cell-mediated SIV dissemination into the CNS: a single-cell transcriptomic analysis.

Background: CNS infection by HIV-1 contributes to neuroinflammation, cognitive impairments, and the establishment of viral reservoirs. Although HIV-1 is known to enter the brain early in infection via "Trojan horse" leukocytes, including infected monocytes and CD4+T cells, the specific cellular phenotypes facilitating this process during acute infection remain incompletely characterized.

Objective: This study aims to characterize the roles of brain lymphocytes during acute infection and primary CD4+ T cell phenotypes seeding the SIV to the CNS.

A Case of -Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection.

-deficient hyperphenylalaninemia is a recently described inborn error of metabolism associated with hyperphenylalaninemia, neurotransmitter deficiency, and developmental delay caused by biallelic pathogenic variants of the gene. The loss of the -encoded chaperone results in the destabilization of the biopterin-dependent aromatic amino acid hydroxylases, resulting in deficiencies in dopamine, norepinephrine, and serotonin. We present the case of a patient who screened positive for hyperphenylalaninemia on newborn screening and was discovered to be homozygous for a likely pathogenic variant of .