Search
Search Results
-
Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report
BackgroundThis article presents a case study of two white male siblings of 24 and 31 years of age of self-reported Ukrainian ethnicity diagnosed with...
-
Structural insights into substrate recognition and translocation of human peroxisomal ABC transporter ALDP
Dysfunctions of ATP-binding cassette, subfamily D, member 1 (ABCD1) cause X-linked adrenoleukodystrophy, a rare neurodegenerative disease that...
-
Easily misdiagnosed X-linked adrenoleukodystrophy
BackgroundAddison’s disease and X-linked adrenoleukodystrophy (X-ALD) (Addison’s-only) are two diseases that need to be identified. Addison’s disease...
-
A patient with X-linked adrenoleukodystrophy presenting with central precocious puberty: a case report
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by the variations in the ATP-binding cassette sub-family D member 1 (ABCD1)...
-
Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders
BackgroundThe pediatric genetic white matter disorders are characterized by a broad disease spectrum. Genetic testing is valuable in the diagnosis....
-
Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy
Aberrant endocannabinoid signaling accompanies several neurodegenerative disorders, including multiple sclerosis. Here, we report altered...
-
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with a high genetic and clinical heterogeneity. Numerous HSP patients...
-
Establishment and validation of a novel peroxisome-related gene prognostic risk model in kidney clear cell carcinoma
BackgroundKidney clear cell carcinoma (KIRC) is the most common subtype of renal cell carcinoma. Peroxisomes play a role in the regulation of...
-
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involvement of white matter of...
-
The clinical spectrum of X-linked adrenoleukodystrophy: from Addison’s-only in men to middle-age neurologic manifestations in women
X-linked adrenoleukodystrophy (X-ALD) is caused by a mutation in the ABCD1 gene which encodes for a peroxisomal very long-chain fatty acid (VLCFA)...
-
The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology
Although the pathology of X-linked adrenoleukodystrophy (ALD) is well described, it represents the end-stage of neurodegeneration. It is still...
-
-
Integrative rare disease biomedical profile based network supporting drug repurposing or repositioning, a case study of glioblastoma
BackgroundGlioblastoma (GBM) is the most aggressive and common malignant primary brain tumor; however, treatment remains a significant challenge....
-
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy
BackgroundZellweger spectrum disorders (ZSD) and X-linked adrenoleukodystrophy (X-ALD) are inherited metabolic diseases characterized by dysfunction...
-
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders
Brain iron accumulation disorders (BIADs) are a group of diseases characterized by iron overload in deep gray matter nuclei, which is a common...
-
Interval between contrast administration and T1-weighted MRI for cerebral adrenoleukodystrophy: a single-case observation
In adrenoleukodystrophy (ALD), contrast enhancement (CE) is a disease activity marker, but there is uncertainty about the optimal delay, if any,...
-
-
Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients
BackgroundThe peroxisome is a ubiquitous single membrane-enclosed organelle with an important metabolic role. Peroxisomal disorders represent a class...
-
HOXB2 promotes cisplatin resistance by upregulating lncRNA DANCR in ovarian cancer
Ovarian cancer (OV) is a highly fatal malignant disease that commonly manifests at an advanced stage. Drug resistance, particularly platinum...
