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NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation [PDF]

Life, 2021
NGLY1 deficiency is the first recognized autosomal recessive disorder of N-linked deglycosylation (NGLY1-CDDG). This severe multisystemic disease is still poorly known and, to date, most cases have been diagnosed through whole exome or genome sequencing.
Ivana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, Kimiyo Raymond, Franklin Ducatez, Anne-Marie Guerrot, Sarah Snanoudj, Sophie Coutant, Pascale Saugier-Veber, Stéphane Marret, Gaël Nicolas, Abdellah Tebani, Soumeya Bekri   +12 more
doaj   +8 more sources

Reversibility of motor dysfunction in the rat model of NGLY1 deficiency [PDF]

Molecular Brain, 2021
N-glycanase 1 (NGLY1) deficiency is a rare inherited disorder characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, motor deficits, and other neurological symptoms.
Makoto Asahina, Reiko Fujinawa, Hiroto Hirayama, Ryuichi Tozawa, Yasushi Kajii, Tadashi Suzuki   +5 more
doaj   +6 more sources

A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency [PDF]

eLife, 2020
N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the NGLY1 gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears.
Dana M Talsness, Katie G Owings, Emily Coelho, Gaelle Mercenne, John M Pleinis, Raghavendran Partha, Kevin A Hope, Aamir R Zuberi, Nathan L Clark, Cathleen M Lutz, Aylin R Rodan, Clement Y Chow   +11 more
doaj   +9 more sources

AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency [PDF]

Molecular Therapy: Methods & Clinical Development, 2022
N-glycanase 1 (NGLY1) Deficiency is a progressive, ultra-rare, autosomal recessive disorder with no approved therapy and five core clinical features: severe global developmental delay, hyperkinetic movement disorder, elevated liver transaminases ...
Lei Zhu, Brandon Tan, Selina S. Dwight, Brendan Beahm, Matt Wilsey, Brett E. Crawford, Becky Schweighardt, Jennifer W. Cook, Thomas Wechsler, William F. Mueller   +9 more
doaj   +6 more sources

NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems [PDF]

Frontiers in Cell and Developmental Biology, 2022
Background: NGLY1 is an enigmatic enzyme with multiple functions across a wide range of species. In humans, pathogenic genetic variants in NGLY1 are linked to a variable phenotype of global neurological dysfunction, abnormal tear production, and liver ...
Aviv Mesika, Aviv Mesika, Golan Nadav, Golan Nadav, Chen Shochat, Limor Kalfon, Karen Jackson, Ayat Khalaileh, Ayat Khalaileh, David Karasik, Tzipora C. Falik-Zaccai, Tzipora C. Falik-Zaccai   +11 more
doaj   +6 more sources

NGLY1 deficiency—A rare congenital disorder of deglycosylation [PDF]

JIMD Reports, 2020
Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental milestones, complex hyperkinetic movement disorder, transient elevation of transaminases, and ...
Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar   +6 more
doaj   +5 more sources

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

Journal of Inherited Metabolic Disease
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
Tzipora Falik-Zaccai
exaly   +5 more sources

Preclinical pharmacology and safety studies to support an AAV9 NGLY1 gene therapy clinical trial for the treatment of NGLY1 deficiency [PDF]

Molecular Therapy: Methods & Clinical Development
GS-100 is an AAV9 gene replacement therapy for the treatment of N-glycanase 1 (NGLY1) deficiency, an ultra-rare, recessive disorder characterized by developmental delay, intellectual disability, hyperkinetic movement disorder, elevated liver enzymes ...
Lei Zhu, Jennifer W. Cook, Alicia Newton, Selina S. Dwight, Brendan Beahm, Matt Wilsey, William F. Mueller, Becky Schweighardt   +7 more
doaj   +6 more sources

NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry [PDF]

Orphanet Journal of Rare Diseases, 2022
Purpose NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic pathogenic NGLY1 variants. The aims of this study were to (1) characterize the variants and clinical features of the largest cohort of NGLY1 Deficiency patients reported
Caroline R. Stanclift, Selina S. Dwight, Kevin Lee, Quirine L. Eijkenboom, Matt Wilsey, Kristen Wilsey, Erica Sanford Kobayashi, Sandra Tong, Matthew N. Bainbridge   +8 more
doaj   +4 more sources

GlcNAc-Asn is a biomarker for NGLY1 deficiency [PDF]

Journal of Biochemistry, 2022
Abstract Substrate-derived biomarkers are necessary in slowly progressing monogenetic diseases caused by single-enzyme deficiencies to identify affected patients and serve as surrogate markers for therapy response. N-glycanase 1 (NGLY1) deficiency is an ultra-rare autosomal recessive disorder characterized by developmental delay ...
Justin Mak, Brett E Crawford
exaly   +5 more sources