Search Results for: defects

February 13, 2020February 13, 2020

Hyperactivity, Memory Defects, and Craniofacial Abnormalities in Zebrafish fmr1 Mutant Larvae.

Autism Literature

Publication date: Feb 12, 2020 Fragile X syndrome (FXS) is a heritable mental retardation disease caused by unstable trinucleotide repeat sequences in FMR1. FXS is characterized by delayed development, hyperactivity, ... Read more

February 8, 2020February 8, 2020

The green tea polyphenol epigallocatechin-3-gallate (EGCG) restores CDKL5-dependent synaptic defects in vitro and in vivo.

Autism Literature

Publication date: Feb 04, 2020 CDKL5 deficiency disorder (CDD) is a rare X-linked neurodevelopmental disorder that is characterised by early-onset seizures, intellectual disability, gross motor impairment, and autistic-like features. CDD ... Read more

March 28, 2020

An Integrated Network Analysis of mRNA and Gene Expression Profiles in Parkinson’s Disease.

Parkinson's Disease Literature

Publication date: Mar 25, 2020 BACKGROUND Parkinson’s disease (PD) is a degenerative neurologic disease. This study aimed to undertake bioinformatics analysis using the publicly available Gene Expression Omnibus (GEO) database ... Read more

March 25, 2020

alpha-Synuclein: a Modulator During Inflammatory CNS Demyelination.

Multiple Sclerosis Literature

Publication date: Mar 23, 2020 Neuroinflammation and demyelination are hallmarks of several neurological disorders such as multiple sclerosis and multiple system atrophy. To better understand the underlying mechanisms of de- ... Read more

March 23, 2020March 23, 2020

Physical exercise protects against mitochondria alterations in the 6-hidroxydopamine rat model of Parkinson’s disease.

Parkinson's Disease Literature

Publication date: Mar 18, 2020 Parkinson’s disease (PD) is typicaly caractherized by loss of dopaminergic neurons, as well as the presence of mitochondrial impairments. Although physical exercise is known to ... Read more

March 22, 2020

The Enigma and Challenges of Vitiligo Pathophysiology and Treatment.

Melanoma Literature

Publication date: Mar 21, 2020 Vitiligo is the most common acquired pigmentary disorder, which afflicts 0.5-1% of the world population, and is characterized by depigmented skin patches resulting from melanocyte ... Read more

March 21, 2020March 21, 2020

Assessment of clinical outcomes with immune checkpoint inhibitor therapy in melanoma patients with CDKN2A and TP53 pathogenic mutations.

Melanoma Literature

Publication date: Sep 30, 2019 CDKN2A and TP53 mutations are recurrent events in melanoma, occurring in 13.3% and 15.1% of cases respectively and are associated with poorer outcomes. It is ... Read more

March 21, 2020

Mdm2 enhances ligase activity of parkin and facilitates mitophagy.

Parkinson's Disease Literature

Publication date: Mar 19, 2020 Loss-of-function mutations in the E3 ubiquitin ligase parkin have been implicated in the death of dopaminergic neurons in the substantia nigra, which is the root ... Read more

March 19, 2020March 19, 2020

Transitional B cells involved in autoimmunity and their impact on neuroimmunological diseases.

Multiple Sclerosis Literature

Publication date: Mar 17, 2020 Transitional B cells (TrB cells) represent a crucial link between immature B cells in the bone marrow and mature peripheral B cells. Although TrB cells ... Read more

March 18, 2020March 18, 2020

Precision health: A pragmatic approach to understanding and addressing key factors in autoimmune diseases.

Precision Medicine Literature

Publication date: Mar 12, 2020 The past decade has witnessed a significant paradigm shift in the clinical approach to autoimmune diseases, lead primarily by initiatives in precision medicine, precision health ... Read more