[HTML][HTML] Congenital disorders of glycosylation from a neurological perspective
J Paprocka, A Jezela-Stanek, A Tylki-Szymańska… - Brain Sciences, 2021 - mdpi.com
Most plasma proteins, cell membrane proteins and other proteins are glycoproteins with
sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the …
sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the …
PIGW-related glycosylphosphatidylinositol deficiency: A case report and literature review
Z Fang, C Hu, S Zhou, L Yu - Neurological Sciences, 2024 - Springer
Introduction PIGW-related glycosylphosphatidylinositol deficiency is a rare disease that
manifests heterogeneous clinical phenotypes. Methods We describe a patient with PIGW …
manifests heterogeneous clinical phenotypes. Methods We describe a patient with PIGW …
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study
B Cavirani, C Spagnoli, SG Caraffi, A Cavalli… - International Journal of …, 2024 - mdpi.com
The genetic causes of epilepsies and developmental and epileptic encephalopathies (DEE)
with onset in early childhood are increasingly recognized. Their outcomes vary from benign …
with onset in early childhood are increasingly recognized. Their outcomes vary from benign …
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum
K Higashimoto, F Sun, E Imagawa, K Saida… - Journal of Medical …, 2024 - jmg.bmj.com
Background Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder caused by
(epi) genetic alterations at 11p15. Because approximately 20% of patients test negative via …
(epi) genetic alterations at 11p15. Because approximately 20% of patients test negative via …
Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW‐related prenatal findings
L Ronzoni, S Boito, C Meossi, C Cesaretti… - Prenatal …, 2022 - Wiley Online Library
Objective We describe the prenatal ultrasound findings and autopsy of three fetuses with
multiple congenital anomalies (MCA) whose diagnostic workup suggested the same genetic …
multiple congenital anomalies (MCA) whose diagnostic workup suggested the same genetic …
Structure and Function of the Glycosylphosphatidylinositol Transamidase, a Transmembrane Complex Catalyzing GPI Anchoring of Proteins
D Li - Macromolecular Protein Complexes V: Structure and …, 2024 - Springer
Glycosylphosphatidylinositol (GPI) anchoring of proteins is a ubiquitous posttranslational
modification in eukaryotic cells. GPI-anchored proteins (GPI-APs) play critical roles in …
modification in eukaryotic cells. GPI-anchored proteins (GPI-APs) play critical roles in …
[PDF][PDF] Tylki-Szyma nska, A.; Grunewald, S. Congenital Disorders of Glycosylation from a Neurological Perspective. Brain Sci. 2021, 11, 88
J Paprocka, A Jezela-Stanek - 2021 - pdfs.semanticscholar.org
Most plasma proteins, cell membrane proteins and other proteins are glycoproteins with
sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the …
sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the …
Mutação no gene PIGW associada a défice de glicosilfosfatidilinositol: caso clínico
MAC Duarte - 2021 - repositorio.ul.pt
Introdução: O Glicosilfosfatidilinositol (GPI) é um glicolípido de membrana que tem como
função auxiliar na ancoragem de mais de 150 proteínas à membrana celular. Estão …
função auxiliar na ancoragem de mais de 150 proteínas à membrana celular. Estão …