# Neuropathogenic Studies of Congenital Disorders of Glycosylation

> **NIH NIH R21** · UNIVERSITY OF PENNSYLVANIA · 2020 · $445,969

## Abstract

Congenital disorders of glycosylation (CDG) are a group of neurometabolic disorders characterized by
genetic defects in the highly conserved cellular glycosylation machinery. A majority of CDG patients
have biallelic mutations in PMM2, a gene encoding the protein phosphomannomutase 2 required to
activate mannose monosaccharides for N-linked protein glycosylation. PMM2-CDG patients suffer from
multi-systemic involvement, and all patients uniformly suffer from neurological impairment that is
prominent, progressive, and produces lifelong intellectual disability, ataxia and often seizures. Based on
the genetic basis of CDG, we propose to establish and characterize a novel mouse model of PMM2-CDG
to specifically investigate the function of PMM2 in neuronal and glial cells. We will also investigate the
role of PMM2 in cerebellum development and function. With combined genetic, molecular, and
behavioral approaches, we hope to not only reveal novel insight into the pathogenic mechanisms of CDG,
but also to expedite the development of mechanism-based therapeutics to improve treatment. Moreover,
our proposed study will provide the research community at large with innovative tools and resources to
investigate the pathophysiology underlying a variety of glycosylation deficit-related disorders.

## Key facts

- **NIH application ID:** 9979478
- **Project number:** 1R21NS112742-01A1
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** Zhaolan Zhou
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $445,969
- **Award type:** 1
- **Project period:** 2020-05-01 → 2022-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9979478

## Citation

> US National Institutes of Health, RePORTER application 9979478, Neuropathogenic Studies of Congenital Disorders of Glycosylation (1R21NS112742-01A1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/9979478. Licensed CC0.

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