Results 41 to 50 of about 11,658 (188)

Complete Correction of Brain and Spinal Cord Pathology in Metachromatic Leukodystrophy Mice

Frontiers in Molecular Neuroscience, 2021
Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder characterized by accumulation of sulfatides in both glial cells and neurons. MLD results from an inherited deficiency of arylsulfatase A (ARSA) and myelin degeneration in the central and ...
E. Audouard, Valentin Oger, Béatrix Meha, N. Cartier, C. Sevin, F. Piguet   +5 more
semanticscholar   +1 more source

Divergent Chemoenzymatic Synthesis of Sulfated Ganglio‐Oligosaccharides for Probing Ligand Requirements of Glycan Binding Proteins

Angewandte Chemie, Volume 137, Issue 11, March 10, 2025.
The chemical synthesis of orthogonal protected tetra‐ and pentasaccharides combined with chemical sulfation and enzymatic sialylations gave a panel of sulfated ganglio‐oligosaccharides that were printed as microarray and screened for binding to lectins, glycan binding proteins, and antibodies. It revealed that sulfation modulates recognition in complex
Mehman I. Bunyatov, Margreet A. Wolfert, Geert‐Jan Boons   +2 more
wiley   +2 more sources

Artificially Induced Pluripotent Stem Cell-Derived Whole-Brain Organoid for Modelling the Pathophysiology of Metachromatic Leukodystrophy and Drug Repurposing

Biomedicines, 2021
Metachromatic leukodystrophy (MLD) is a rare neurodegenerative disease that results from a deficiency of the lysosomal enzyme arylsulfatase A (ARSA). Worldwide, there are between one in 40,000 and one in 160,000 people living with the disease.
S. Esmail, W. Danter
semanticscholar   +1 more source

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

Frontiers in Pediatrics, 2021
Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the central nervous system with or without peripheral nerve involvement. They are individually rare, but collectively, they are common.
Majid Alfadhel, Majid Alfadhel, Majid Alfadhel, Mohammed Almuqbil, Mohammed Almuqbil, Fuad Al Mutairi, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshuaibi, Duaa Ba-Armah, Duaa Ba-Armah, Mohammed A. Saleh, Ali Al-Asmari, Eissa Faqeih, Waleed Altuwaijri, Waleed Altuwaijri, Ahmed Al-Rumayyan, Ahmed Al-Rumayyan, Mohammed Ali Balwi, Mohammed Ali Balwi, Faroug Ababneh, Abdulrahman Faiz Alswaid, Abdulrahman Faiz Alswaid, Wafaa M. Eyaid, Wafaa M. Eyaid, Naif A. M. Almontashiri, Naif A. M. Almontashiri, Amal Alhashem, Amal Alhashem, Khalid Hundallah, Aida Bertoli-Avella, Peter Bauer, Christian Beetz, Muhammad Talal Alrifai, Muhammad Talal Alrifai, Ahmed Alfares, Ahmed Alfares, Brahim Tabarki   +42 more
doaj   +1 more source

Metachromatic Leukodystrophy: Diagnosis and Treatment Challenges

Bionatura, 2021
Metachromatic leukodystrophy is a neurological disease of the lysosomal deposit that has a significant impact given the implications for the neurodegenerative deterioration of the patient.
N. T. Sanchez-Álvarez, P. Bautista-Niño, Juanita Trejos-Suárez, N. Serrano-Díaz   +3 more
semanticscholar   +1 more source

Gene therapy for metachromatic leukodystrophy [PDF]

Journal of Neuroscience Research, 2016
Leukodystrophies (LDs) are rare, often devastating genetic disorders with neurologic symptoms. There are currently no disease‐specific therapeutic approaches for these diseases. In this review we use metachromatic leukodystrophy as an example to outline in the brief the therapeutic approaches to MLD that have been tested in animal models and in ...
Stephen M. Kaminsky, Patrick Aubourg, Jonathan B. Rosenberg, Ronald G. Crystal, Dolan Sondhi   +4 more
openaire   +3 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Spasmodic Dysphonia

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley   +1 more source

Blood Biomarkers Reflecting Brain Pathology—From Common Grounds to Rare Frontiers

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Understanding pathological changes in the brain is essential for guiding treatment decisions in brain injuries and diseases. Despite significant advances in brain imaging techniques, clinical practice still faces challenges due to infrastructure reliance and high resource demands.
Isabelle Weinhofer, Paulus Rommer, Johannes Berger   +2 more
wiley   +1 more source

Metachromatic leukodystrophy: A case report

Bangabandhu Sheikh Mujib Medical University Journal, 2016
Metachromatic leuk:odystrophy (MLD) is a rare neurometabolic disease caused by the deficiency of the enzyme arylsulfa­tase A .Deficiency of this enzyme results in intralysosomal storage ofsphingolipid , cerebroside 3-sulfates (sulfatides), which are ...
Gopen Kumar Kundu, Shaheen Akhter, M. Mizanur Rahman   +2 more
doaj   +1 more source