Results 51 to 60 of about 955 (143)

Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum [PDF]

, 2007
Zito E, Buono M, Pepe S, et al. Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum. EMBO JOURNAL.
Cozzolino, Marianna, Settembre, Carmine, Cosma, Maria Pia, PEPE S, Pepe, Stefano, COZZOLINO M, Zito, Ester, ZITO E, BUONO M, Ballabio, Andrea, COSMA MP, Annunziata, Ida, ANNUNZIATA I, DIERKS T, PUCCI, PIETRO, Surace, Enrico Maria, Dierks, Thomas, Pucci, Piero, Monti, Maria, Buono, Mario   +19 more
core   +1 more source

The analysis of a mouse model of Lysosomal Storage Disorder uncovers a role for astrocyte dysfunction in neurodegeneration [PDF]

, 2012
Astrocytes are the most abundant cellular population in the brain and their role in neurodegenerative processes is becoming increasingly appreciated.
Di Malta, Chiara
core   +1 more source

Enhancing the Therapeutic Potential of Sulfamidase for the Treatment of Mucopolysaccharidosis IIIA

Molecular Therapy: Methods & Clinical Development, 2019
Mucopolysaccharidosis type IIIA (MPS-IIIA) is a lysosomal storage disorder (LSD) caused by inherited defect of sulfamidase, a lysosomal sulfatase. MPS-IIIA is one of the most common and severe forms of LSDs with CNS involvement.
Nicolina Cristina Sorrentino, Vincenzo Cacace, Maria De Risi, Veronica Maffia, Sandra Strollo, Novella Tedesco, Edoardo Nusco, Noemi Romagnoli, Domenico Ventrella, Yan Huang, Nan Liu, Susan L. Kalled, Vivian W. Choi, Elvira De Leonibus, Alessandro Fraldi   +14 more
doaj   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Multiple Sulfatase Deficiency PerlQuest Research Plan v2

, 2022
Proposal to generate Multiple Sulfatase Deficiency fly patient avatars expressing specific SUMF1 ...
ETHAN PERLSTEIN (12257612)
core   +1 more source

Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives

Molecular Genetics and Metabolism Reports, 2020
Metachromatic leukodystrophy (MLD) is a glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme arylsulfatase A (ASA) or its activator protein saposin B. MLD can affect all age groups in severity varying from a severe fatal form to
Faruk Pekgül, Nesibe Gevher Eroğlu-Ertuğrul, Can Ebru Bekircan-Kurt, Sevim Erdem-Ozdamar, Arda Çetinkaya, Ersin Tan, Bahadır Konuşkan, Ergun Karaağaoğlu, Meral Topçu, Nurten Ayşe Akarsu, Kader K. Oguz, Banu Anlar, Hatice Asuman Özkara   +12 more
doaj   +1 more source

Leveraging multiomic approaches to elucidate mechanisms of heterogeneity in Alzheimer's disease: Neuropsychiatric symptoms, co‐pathologies, and sex differences

Alzheimer's &Dementia, Volume 21, Issue 8, August 2025.
Abstract The heterogeneity of Alzheimer's disease (AD) is multi‐dimensional, encompassing clinical features such as neuropsychiatric symptoms (NPS), rate of progression, age of onset, comorbidities, and neuropathological features such as co‐pathologies, and represents the diverse outcomes of manifold genetic and environmental risk determinants.
E. Keats Shwab, Gita A. Pathak, Joshua Harvey, Michael E. Belloy, Corinne E. Fischer, Michael W. Lutz, Sonja W. Scholz, Noah Cook, Danielle M. Reid, Jingchun Chen, Dylan X. Guan, Fabricio Oliveira, Lindsey I. Sinclair, Uzochukwu Imo, Byron Creese, Ornit Chiba‐Falek, Neuropsychiatric Syndromes Professional Interest Area Multiomics Work Group, Alzheimer's Association, International Society to Advance Alzheimer's Research and Treatment, Chicago, Illinois, USA   +21 more
wiley   +1 more source

GWAS links APOE to neuropsychiatric symptoms in mild cognitive impairment and dementia

Alzheimer's &Dementia, Volume 21, Issue 6, June 2025.
Abstract INTRODUCTION Neuropsychiatric symptoms in dementia (NPS) collectively refer to behavioral and psychological symptoms affecting individuals with mild cognitive impairment (MCI) or Alzheimer's disease or related dementia (ADRD). NPS are among the most troubling aspects of living with dementia but their treatments have limited efficacy. We aim to
Selina M. Vattathil, Freida Blostein, Tyne W. Miller‐Fleming, Lea K. Davis, Alzheimer's Disease Genetics Consortium (ADGC), Alzheimer's Disease Neuroimaging Initiative, Thomas S. Wingo, Aliza P. Wingo   +7 more
wiley   +1 more source

Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase

Cell Reports, 2018
Summary: Multiple sulfatase deficiency (MSD) is a fatal, inherited lysosomal storage disorder characterized by reduced activities of all sulfatases in patients.
Lars Schlotawa, Michaela Wachs, Olaf Bernhard, Franz J. Mayer, Thomas Dierks, Bernhard Schmidt, Karthikeyan Radhakrishnan   +6 more
doaj   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source