Refsum Disease

Refsum disease is an autosomal recessive disorder of lipid metabolism characterized by adult-onset retinitis pigmentosa, anosmia, sensory neuropathy, ataxia, and an accumulation of phytanic acid in plasma and tissues. Here is the latest research on this peroxisomal disorder.

February 21, 2020

Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome

Journal of the Peripheral Nervous System : JPNS
Andreas ThimmMark Stettner
August 2, 2019

Rosai-Dorfman Disease of the Pancreas Shows Significant Histologic Overlap With IgG4-related Disease

The American Journal of Surgical Pathology
Jessica TrachtAlyssa M Krasinskas
October 1, 2019
Open Access

Screening for ocular involvement in deaf children

The Pan African Medical Journal
Belghmaidi SarahMoutaouakil Abdeljalil
August 21, 2019
Preprint
Open Access

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

BioRxiv : the Preprint Server for Biology
Erin ZampaglioneKinga M. Bujakowska
November 28, 2020

Dietary phytanic acid-induced changes in tissue fatty acid profiles in mice

The Journal of Dairy Research
Tomonori NakanishiSatoshi Kawahara
February 6, 2020
Review
Open Access

Sjogren-Larsson Syndrome: Mechanisms and Management

The Application of Clinical Genetics
Parayil Sankaran Bindu
October 27, 2020
Case Report
Open Access

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review

Molecular Genetics and Metabolism Reports
Whiwon LeeMichal Inbar-Feigenberg
April 9, 2020
Open Access

Slc25a17 Gene Trapped Mice: PMP34 Plays a Role in the Peroxisomal Degradation of Phytanic and Pristanic Acid

Frontiers in Cell and Developmental Biology
Paul P Van VeldhovenElke Van Ael
November 27, 2019
Open Access

Genetic Spectrum of ABCA4 -Associated Retinal Degeneration in Poland

Genes
Anna M TracewskaKrystyna H Chrzanowska
December 7, 2019
Case Report

Adult onset seizures in learning disability

The Journal of the Royal College of Physicians of Edinburgh
Rehiana Ali, Andrew J Larner
August 11, 2020
Open Access

Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'

Journal of Neuromuscular Diseases
Matthew J JenningsRita Horvath
July 22, 2020

Longitudinal study of Pex1-G844D NMRI mouse model: A robust pre-clinical model for mild Zellweger spectrum disorder

Biochimica Et Biophysica Acta. Molecular Basis of Disease
Tanguy DemaretEtienne M Sokal
December 19, 2020

Clinical, biochemical and molecular characterization of mild (nonclassic) Rhizomelic Chondrodysplasia Punctata

Journal of Inherited Metabolic Disease
Wedad FallatahNancy Braverman
August 22, 2020

Phytanic acid-derived peroxisomal lipid metabolism in porcine oocytes

Theriogenology
Eui Hyun KimByeong Chun Lee

Sign up to follow this feed and discover related papers.

Related Feeds

3D Cellular Models of Brain and Neurodegeneration

Brain organoids are three-dimensional in vitro cellular models of the brain that can recapitulate many processes such as the neurodevelopment. In addition, these organoids can be combined with other cell types, such as neurons and astrocytes to study their interactions in assembloids. Disease processes can also be modeled by induced pluripotent stem cell-derived organoids and assembloids from patients with neurodegenerative disorders. Discover the latest research on the models here.

ALS & FTD: TDP-43

TAR DNA-binding protein 43 (TDP-43) is a pathological protein identified in sporadic Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). Here are the latest discoveries pertaining to TDP-43 and these diseases.

ALS: Genetics

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

ALS: Pathogenic Mechanisms

Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating pathogenic mechanisms that underlie this genetically heterogeneous disorder.

ALS: Phenotypes

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder characterized phenotypically by progressive muscle weakness. Clinical phenotypes of ALS can be classified based on the pattern, level, and area of onset (e.g. bulbar, cervical, lumbar). Here is the latest research investigating phenotypes of ALS.

ALS: Prions

Prions are misfolded proteins which characterize several fatal neurodegenerative diseases. Prion-like mechanisms are associated with the pathogenesis of Amyotrophic Lateral Sclerosis (ALS). Here is the latest research on ALS and prions.

ALS: Stress Granules

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by cytoplasmic protein aggregates within motor neurons. TDP-43 is an ALS-linked protein that is known to regulate splicing and storage of specific mRNAs into stress granules, which have been implicated in formation of ALS protein aggregates. Here is the latest research in this field.

ALS: Therapies

Amyotrophic Lateral Sclerosis (ALS) is associated with the death of neurons that control voluntary muscles. This feed followes the latest research into therapies for this progressive neurodegenerative disease.

Age-related Dementia

Dementias are a group of conditions, including Alzheimer's disease, vascular dementia, and frontotemporal dementia, characterized by deficiencies in cognitive abilities. Age-related dementia refers to dementias that occur in older individuals, usually 60+ years old, in contrast to early-onset dementia. Follow the latest research on age-related dementia here.

Alexander Disease

Alexander disease is a rare leukodystrophy caused by mutations in the astrocyte-specific intermediate filament protein glial fibrillary acidic protein (GFAP). Here is the latest research on this disease.

© 2021 Meta ULC. All rights reserved
/feed-previews/refsum-disease/fe8f06ce-f767-427e-b51e-9142a52a2af4