Results 1 to 10 of about 375 (74)

Impaired Proteostasis is Linked to Neurological Pathology in a Zebrafish NGLY1 Deficiency Model [PDF]

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT NGLY1 is a key enzyme in the process of misfolded protein deglycosylation. Bi‐allelic pathogenic variants in NGLY1 cause N‐glycanase deficiency, also known as congenital disorder of deglycosylation (NGLY1‐CDDG). This rare and multisystem autosomal recessive disorder is linked to a variable phenotype of global developmental delay, neuromuscular
Aviv Mesika, Golan Nadav, Sapir Ben‐David, Limor Kalfon, Chen Shochat, Rana Nasra, Alejandro Livoff, David Karasik, Tzipora C. Falik‐Zaccai   +8 more
wiley   +2 more sources

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan [PDF]

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation‐related disorders. Many of these defects lead to multisystemic manifestations, commonly involving the central nervous system, with symptoms ranging from ...
Nobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada   +2 more
wiley   +2 more sources

Genetic disruption of mammalian endoplasmic reticulum‐associated protein degradation: Human phenotypes and animal and cellular disease models

Traffic, Volume 24, Issue 8, Page 312-333, August 2023., 2023
Degradation of unassembled, misfolded, and other defective proteins is mediated by a major quality control mechanism, named the endoplasmic reticulum‐associated protein degradation (ERAD). Throughout this manuscript, we present the various genetically manipulated higher cellular and mammalian animal models that were depleted for specific ERAD ...
Sally Badawi, Feda E. Mohamed, Divya Saro Varghese, Bassam R. Ali   +3 more
wiley   +1 more source

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 46, Issue 2, Page 206-219, March 2023., 2023
Abstract Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan‐side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosaccharides within lysosomes. In metabolic laboratories, these disorders are commonly diagnosed by thin‐
Marne C. Hagemeijer, Jeroen C. van den Bosch, Michiel Bongaerts, Edwin H. Jacobs, Johanna M. P. van den Hout, Esmee Oussoren, George J. G. Ruijter   +6 more
wiley   +1 more source

NGLY1 Deficiency: A Rare Genetic Disorder Unlocks Therapeutic Potential for Common Diseases

Israel Journal of Chemistry, Volume 63, Issue 1-2, February 2023., 2023
Abstract The enzyme catalysing the removal of N‐linked glycans from misfolded glycoproteins in the cytosol is an evolutionary well‐conserved glycanase called Peptide:N‐glycanase (PNGase; NGLY1 in humans). NGLY1 hydrolyses the amide bond between an Asn and the proximal N‐acetylglucosamine (GlcNAc) of the attached N‐glycan, thereby converting that ...
Simon Walber, Georgia Partalidou, Ulla I. M. Gerling‐Driessen   +2 more
wiley   +1 more source

N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1‐deficient patient‐derived dermal fibroblasts

Journal of Inherited Metabolic Disease, Volume 46, Issue 1, Page 76-91, January 2023., 2023
Abstract Congenital disorders of glycosylation are genetic disorders that occur due to defects in protein and lipid glycosylation pathways. A deficiency of N‐glycanase 1, encoded by the NGLY1 gene, results in a congenital disorder of deglycosylation.
Rohit Budhraja, Mayank Saraswat, Diederik De Graef, Wasantha Ranatunga, Madan G. Ramarajan, Jehan Mousa, Tamas Kozicz, Akhilesh Pandey, Eva Morava   +8 more
wiley   +1 more source

An Induced Pluripotent Stem Cell‐Derived Neuromuscular Junction Platform for Study of the NGLY1‐Congenital Disorder of Deglycosylation

Advanced Therapeutics, Volume 5, Issue 11, November 2022., 2022
NGLY1‐CDDG is a rare and recently identified congenital deglycosylation disorder that impairs motor function. Motoneurons (MNs) derived from NGLY1‐deficient patients are co‐cultured with skeletal muscle in a neuromuscular junction microphysiological system.
Trevor Sasserath, Ashley L. Robertson, Roxana Mendez, Tristan T. Hays, Ethan Smith, Helena Cooper, Nesar Akanda, John W. Rumsey, Xiufang Guo, Atena Farkhondeh, Manisha Pradhan, Karsten Baumgaertel, Matthew Might, Steven Rodems, Wei Zheng, James J. Hickman   +15 more
wiley   +1 more source

Off‐target inhibition of NGLY1 by the polycaspase inhibitor Z‐VAD‐fmk induces cellular autophagy

The FEBS Journal, Volume 289, Issue 11, Page 3115-3131, June 2022., 2022
Inhibition of NGLY1 by polycaspase inhibitor Z‐VAD‐fmk in HEK293 cells leads to induction of autophagy and increase in autophagosome formation rather than disruption of autophagic flux. Similarly, autophagy induction is observed with NGLY1 siRNA knockdown.
Sarah H. Needs, Martin D. Bootman, Jeff E. Grotzke, Holger B. Kramer, Sarah A. Allman   +4 more
wiley   +1 more source

Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants

Molecular Genetics &Genomic Medicine, Volume 10, Issue 1, January 2022., 2022
We report the molecular and biochemical basis of an extended highly consanguineous family with five children presenting severe congenital hypotonia who underwent a ‘diagnostic odyssey.’ We have identified a novel nonsense variant in NGLY1 in two affected siblings, and compound heterozygosity for three novel RYR1 variants in two affected sisters from ...
Limor Kalfon, Meirav Baydany, Nadra Samra, Nawaf Heno, Zvi Segal, Ayelet Eran, Alon Yulevich, Yakov Fellig, Hanna Mandel, Tzipora C. Falik‐Zaccai   +9 more
wiley   +1 more source

Spatial Transcriptomic Analysis Using R‐Based Computational Machine Learning Reveals the Genetic Profile of Yang or Yin Deficiency Syndrome in Chinese Medicine Theory

Evidence-Based Complementary and Alternative Medicine, Volume 2022, Issue 1, 2022., 2022
Objectives. Yang and Yin are two main concepts responsible for harmonious balance reflecting health conditions based on Chinese medicine theory. Of note, deficiency of either Yang or Yin is associated with disease susceptibility. In this study, we aim to clarify the molecular feature of Yang and Yin deficiency by reanalyzing a transcriptomic data set ...
Cheng Zhang, Chi wing Tam, Guoyi Tang, Yuanyuan Chen, Ning Wang, Yibin Feng, Woon-Man Kung   +6 more
wiley   +1 more source