Work

Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy

Year: 2020

Type: review

Abstract: 1 mutation and the clinical phenotypes, and the molecular basis of phenotypic variability in X-ALD is yet to be resolved. Various genetic, epigenetic, and environmental influences are speculated to modify the disease onset and severity. In this review, we summarize the observations made in various studies investigating the potential modifying factors regulating the clinical manifestation of X-ALD, which could help understand the pathogenesis of the disease and develop suitable therapeutic strategies.

Source: World Journal of Biological Chemistry

DOI: 10.4331/wjbc.v11.i3.99

Authors: Shruti V Palakuzhiyil, Rita Christopher, Sadanandavalli Retnaswami Chandra

Institution: National Institute of Mental Health and Neurosciences

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W3100006004

FWCI: 0.355

Cites: 64

Cited by: 24

Related to: 10