X‐linked adrenoleukodystrophy: pathology, pathophysiology, diagnostic testing, newborn screening and therapies

BR Turk, C Theda, A Fatemi… - International Journal of …, 2020 - Wiley Online Library
Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the
peroxisomal ABCD1 gene. This review summarizes our current understanding of the …

Biology of oligodendrocyte and myelin in the mammalian central nervous system

N Baumann, D Pham-Dinh - Physiological reviews, 2001 - journals.physiology.org
Oligodendrocytes, the myelin-forming cells of the central nervous system (CNS), and
astrocytes constitute macroglia. This review deals with the recent progress related to the …

Biochemistry of mammalian peroxisomes revisited

RJA Wanders, HR Waterham - Annu. Rev. Biochem., 2006 - annualreviews.org
In this review, we describe the current state of knowledge about the biochemistry of
mammalian peroxisomes, especially human peroxisomes. The identification and …

PEROXISOMAL β-OXIDATION AND PEROXISOME PROLIFERATOR–ACTIVATED RECEPTOR α: An Adaptive Metabolic System

JK Reddy, T Hashimoto - Annual review of nutrition, 2001 - annualreviews.org
▪ Abstract β-Oxidation occurs in both mitochondria and peroxisomes. Mitochondria catalyze
the β-oxidation of the bulk of short-, medium-, and long-chain fatty acids derived from diet …

Peroxisome-mitochondria interplay and disease

M Schrader, J Costello, LF Godinho… - Journal of inherited …, 2015 - Springer
Peroxisomes and mitochondria are ubiquitous, highly dynamic organelles with an oxidative
type of metabolism in eukaryotic cells. Over the years, substantial evidence has been …

Addison's disease 2001

S Ten, M New, N Maclaren - The Journal of Clinical …, 2001 - academic.oup.com
Whereas it is now more than 150 yr since T. Addison first described the clinical and
pathological features of adrenal failure, the disease remains underdiagnosed, leading to …

[HTML][HTML] Peroxisomes in brain development and function

J Berger, F Dorninger, S Forss-Petter… - Biochimica Et Biophysica …, 2016 - Elsevier
Peroxisomes contain numerous enzymatic activities that are important for mammalian
physiology. Patients lacking either all peroxisomal functions or a single enzyme or …

[HTML][HTML] Pathophysiology of X-linked adrenoleukodystrophy

J Berger, S Forss-Petter, FS Eichler - Biochimie, 2014 - Elsevier
Currently the molecular basis for the clinical heterogeneity of X-linked
adrenoleukodystrophy (X-ALD) is poorly understood. The genetic bases for all different …

Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytes

CM Kassmann, C Lappe-Siefke, M Baes, B Brügger… - Nature …, 2007 - nature.com
Oligodendrocytes myelinate axons for rapid impulse conduction and contribute to normal
axonal functions in the central nervous system. In multiple sclerosis, demyelination is …

X-linked adrenoleukodystrophy: pathogenesis and treatment

M Engelen, S Kemp, BT Poll-The - Current neurology and neuroscience …, 2014 - Springer
Abstract X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism
with a strikingly heterogeneous clinical spectrum. All patients have mutations in the ABCD1 …