Novel therapeutic targets and drug candidates for modifying disease progression in adrenoleukodystrophy

A Pujol - Advanced Therapies in Pediatric Endocrinology and …, 2016 - karger.com
X-linked adrenoleukodystrophy (X-ALD) is the most frequent inherited monogenic
demyelinating disease. It is often lethal and currently lacks a satisfactory therapy. The …

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations

CA Stutterd, NJ Lake, H Peters, PJ Lockhart… - JIMD Reports, Volume …, 2019 - Springer
Aim: To identify the genetic aetiology of a distinct leukoencephalopathy causing acute
neurological regression in infancy with apparently complete clinical recovery. Methods: We …

Case report: MRI, clinical, and pathological correlates of bromethalin toxicosis in three dogs

VD Murthy, E McLarty, KD Woolard… - Frontiers in Veterinary …, 2022 - frontiersin.org
Bromethalin toxicosis is an increasingly common clinical presentation in dogs that may be
fatal depending on the extent of intoxication. Antemortem diagnosis of bromethalin toxicosis …

Oxidative phosphorylation and lacunar stroke: genome-wide enrichment analysis of common variants

M Traylor, CD Anderson, R Hurford, S Bevan… - Neurology, 2016 - AAN Enterprises
Objective: We investigated whether oxidative phosphorylation (OXPHOS) abnormalities
were associated with lacunar stroke, hypothesizing that these would be more strongly …

[PDF][PDF] SIRT2 in age-related neurodegenerative disorders

S Fourcade, TF Outeiro, A Pujol - 2018 - pure.mpg.de
www.aging-us.com AGING 2018, Vol. 10, No. 3 Page 1 Sirtuin 2 (SIRT2) is one of seven
members of the NAD+-dependent histone deacetylases (HDAC) family of proteins. Sirtuins …

Ammonia exposition during gestation induces neonatal oxidative damage in the brain and long-term cognitive alteration in rats

D Dominguini, DM DALL'IGNA, L Nogueira… - Anais da Academia …, 2020 - SciELO Brasil
Ammonia is involved in the pathogenesis of neurological conditions associated with
hyperammonemia, including hepatic encephalopathy. Few is known about the effects of …

Dual-tuned Coaxial-transmission-line RF coils with Independent Tuning Capabilities for X-nuclear Metabolic MRS Imaging at Ultrahigh Magnetic Fields

K Payne, Y Zhao, AA Bhosale, X Zhang - arXiv preprint arXiv:2307.11221, 2023 - arxiv.org
Information on the metabolism of tissues in both healthy and diseased states has potential
for detecting tumors, neurodegeneration diseases, diabetes, and many metabolic disorders …

[PDF][PDF] Chlorfenapyr intoxication manifested by extensive leukoencephalomyelopathy

IS Kim, JH Kim, JB Kim, JH Kim - Journal of the Korean Neurological …, 2018 - jkna.org
클로르페나피르 (Chlorfenapyr) 는 살충제로서 미토콘드리아의 산화인산화를 방해하여
아데노신삼인산 (adenosine triphosphate) 형성을 억제하고 세포사를 유발하는 것으로 알려져 …

Mitochondrial dysfunction in multiple sclerosis: A systematic review

A Saberi, S Kazemi - Acta Medica Iranica, 2019 - acta.tums.ac.ir
Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder of the central
nervous system (CNS) and is characterized by a high degree of heterogeneity in …

Near infrared spectroscopy with a vascular occlusion test as a biomarker in children with mitochondrial and other neuro-genetic disorders

S Raman, L Chentouf, C DeVile, MJ Peters, S Rahman - Plos one, 2018 - journals.plos.org
Background Mitochondrial and neurogenetic diseases can present diagnostic challenges.
We investigated if near infrared spectroscopy with the vascular occlusion test is able to …