Question: You are an expert researcher providing comprehensive, well-cited information.

Provide detailed information focusing on: 1. Key concepts and definitions with current understanding 2. Recent developments and latest research (prioritize 2023-2024 sources) 3. Current applications and real-world implementations 4. Expert opinions and analysis from authoritative sources 5. Relevant statistics and data from recent studies

Format as a comprehensive research report with proper citations. Include URLs and publication dates where available. Always prioritize recent, authoritative sources and provide specific citations for all major claims.

Disease Pathophysiology Research Template

Target Disease

• Disease Name: Dystroglycanopathy
• MONDO ID: (if available)
• Category: Mendelian

Research Objectives

Please provide a comprehensive research report on the pathophysiology of Dystroglycanopathy. Focus on the molecular and cellular mechanisms underlying disease progression.

Required Information

1. Core Pathophysiology

• What are the primary pathophysiological mechanisms?
• What molecular pathways are dysregulated?
• What cellular processes are affected?

2. Key Molecular Players

• Genes/Proteins: Which genes are causally involved or implicated?
• Chemical Entities: What metabolites, drugs, or small molecules are relevant?
• Cell Types: Which cell types are primarily affected?
• Anatomical Locations: Which tissues/organs are involved?

3. Biological Processes (for GO annotation)

• What biological processes (GO terms) are disrupted?
• Consider: signaling pathways, metabolic processes, cellular responses, transport, etc.

4. Cellular Components

• Where in the cell do key processes occur?
• Consider: organelles, membrane compartments, extracellular space, etc.

5. Disease Progression

• What is the sequence of events from initial trigger to clinical manifestation?
• Are there distinct stages or phases?

6. Phenotypic Manifestations

• What are the key clinical phenotypes?
• How do they relate to the underlying mechanisms?

Citation Requirements

• Cite primary literature (PMID preferred) for all mechanistic claims
• Prioritize recent reviews and landmark papers
• Include direct quotes where possible to support key statements

Output Format

Structure your response as a narrative that could be used to populate a disease knowledge base entry with: - Pathophysiology description - Gene/protein annotations with ontology terms (HGNC, GO) - Phenotype associations (HP terms) - Cell type involvement (CL terms) - Anatomical locations (UBERON terms) - Chemical entities (CHEBI terms) - Evidence items with PMIDs

Dystroglycanopathy Pathophysiology Research Report (2023–2024 emphasis)

0. Scope and identifiers

Target disease: Dystroglycanopathy (a spectrum of disorders caused by functional defects of dystroglycan—most commonly impaired glycosylation of α-dystroglycan). (cubilla2023dystroglycanopathiesgeneticbases pages 4-5, cubilla2023dystroglycanopathiesgeneticbases pages 3-4)

MONDO ID: Not directly present in the retrieved full-text sources. The Open Targets evidence snapshot used in this run indicates MONDO_0018276 (“muscular dystrophy-dystroglycanopathy”) and MONDO_0018282 (“neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan”), but those identifiers were returned as database output rather than as citable literature context in this report. Therefore, MONDO IDs should be confirmed via MONDO/Orphanet ontology lookup for production use. (benarroch2024the2024version pages 8-9, cubilla2023dystroglycanopathiesgeneticbases pages 4-5)

1. Key concepts, definitions, and current understanding

1.1 Definition and classification

Dystroglycanopathies are muscular dystrophies caused by abnormal O-glycosylation of α-dystroglycan (α-DG), a core component of the dystrophin glycoprotein complex (DGC) that connects the extracellular matrix (ECM) to the intracellular actin cytoskeleton. (cubilla2023dystroglycanopathiesgeneticbases pages 3-4, cubilla2023dystroglycanopathiesgeneticbases pages 4-5)

A common nosologic division is: - Primary dystroglycanopathy: pathogenic variants in DAG1 (dystroglycan itself). (cubilla2023dystroglycanopathiesgeneticbases pages 4-5) - Secondary dystroglycanopathy: variants in the ≈20+ genes needed for α-DG functional glycosylation (O-mannosylation, nucleotide-sugar synthesis, glycan extension, and in some cases Golgi trafficking). (cubilla2023dystroglycanopathiesgeneticbases pages 4-5, cubilla2023dystroglycanopathiesgeneticbases pages 3-4)

1.2 Clinical spectrum (phenotype continuum)

The dystroglycanopathy spectrum spans severe congenital multisystem disease to later-onset limb-girdle muscular dystrophy phenotypes: - Walker–Warburg syndrome (WWS) is described as among the most severe forms, often detectable prenatally, featuring congenital muscular dystrophy plus major brain and eye anomalies. (cubilla2023dystroglycanopathiesgeneticbases pages 8-9) - Muscle-eye-brain (MEB) / Fukuyama congenital muscular dystrophy (FCMD) are classic congenital α-dystroglycanopathy syndromes with prominent CNS/ocular involvement. (cubilla2023dystroglycanopathiesgeneticbases pages 7-8) - Limb-girdle muscular dystrophy forms such as LGMD2I/R9 (FKRP-related) represent milder ends of the same mechanistic axis. (cubilla2023dystroglycanopathiesgeneticbases pages 8-9, unnikrishnan2023phenotypegenotypecharacterization pages 1-3)

2. Core pathophysiology: molecular → cellular → tissue mechanisms

2.1 Central biochemical lesion: loss of functional matriglycan on α-dystroglycan

In dystroglycanopathies, mutations reduce or abolish assembly of a specialized O-mannose–derived glycan culminating in matriglycan, a repeating disaccharide polymer on α-DG ([-3Xyl-α1,3-GlcA-β1-]n). This “functional glycan” is the key determinant of α-DG binding to ECM laminin-G (LG) domain proteins. (cubilla2023dystroglycanopathiesgeneticbases pages 7-8, koff2023proteinomannosylationone pages 2-4)

Matriglycan mediates α-DG interactions with ECM ligands such as laminin, agrin, perlecan, and pikachurin, enabling mechanical stability and signaling functions across tissues (skeletal muscle, brain, eye, heart). (cubilla2023dystroglycanopathiesgeneticbases pages 7-8, lu2024breakdownof pages 1-2)

2.2 Core M3 / matriglycan biosynthesis pathway (current pathway model)

Recent reviews synthesize the pathway as: 1) ER initiation by POMT1/POMT2 (O-mannosylation). (koff2023proteinomannosylationone pages 2-4, koff2023proteinomannosylationone pages 5-6) 2) Core M3 elaboration (e.g., POMGNT2, B3GALNT2). (cubilla2023dystroglycanopathiesgeneticbases pages 7-8, koff2023proteinomannosylationone pages 2-4) 3) Phosphorylation by POMK, generating the phosphorylated “nucleus” needed for downstream steps. (cubilla2023dystroglycanopathiesgeneticbases pages 7-8, koff2023proteinomannosylationone pages 5-6) 4) Ribitol-phosphate pathway: ISPD/CRPPA generates CDP-ribitol; FKTN and FKRP transfer ribitol-5-phosphate, enabling later LARGE1-dependent extension. (lu2024breakdownof pages 1-2, lu2024breakdownof pages 9-10) 5) Primer/linker assembly (e.g., TMEM5/RXYLT1 and B4GAT1) and finally 6) Polymerization by LARGE1, which extends matriglycan. (cubilla2023dystroglycanopathiesgeneticbases pages 7-8, koff2023proteinomannosylationone pages 2-4)

Mechanistic consequence: reduction of matriglycan decreases α-DG ligand binding, disrupting the DGC-mediated ECM–cytoskeleton linkage and causing contraction-induced injury and downstream inflammation/fibrosis/regeneration cycles in muscle. (lu2024breakdownof pages 1-2, unnikrishnan2023phenotypegenotypecharacterization pages 1-3)

2.3 Tissue-level mechanisms

Skeletal muscle

Loss of functional α-DG glycosylation weakens the sarcolemma–basal lamina connection, contributing to muscle fiber fragility and dystrophic degeneration. FKRP encodes a ribitol-5-phosphate transferase required for functional laminin-binding glycosylation on the sarcolemma. (lu2024breakdownof pages 1-2, unnikrishnan2023phenotypegenotypecharacterization pages 1-3)

Brain development, basement membranes, and neuronal migration

Defective O-mannosylation (e.g., POMT loss) abolishes α-DG–ECM interactions required for pial basement membrane integrity, contributing to brain malformations and migration defects (cobblestone lissencephaly spectrum). (koff2023proteinomannosylationone pages 5-6, NCT00313677 chunk 2)

Synapses and excitability (seizure biology)

A 2024 eLife study provides strong mechanistic evidence that severe dystroglycan glycosylation loss in forebrain disrupts development and function of CCK+/CB1R+ inhibitory basket synapses onto hippocampal pyramidal neurons and reduces seizure threshold. (jahncke2024inhibitorycck+basket pages 1-2, jahncke2024inhibitorycck+basket pages 15-16)

Quantitatively, seizure susceptibility (flurothyl) tracks with glycosylation severity: generalized tonic-clonic seizure latency reductions were ~40.9% (Emx1Cre:Dag1 cKO), ~42.9% (Emx1Cre:Pomt2 cKO), and ~33.6% (Dag1cyto/-), while milder hypoglycosylation models showed smaller or no effects. (jahncke2024inhibitorycck+basket pages 13-15)

Retina and axon guidance

A 2024 Human Molecular Genetics zebrafish POMT1 loss model shows that loss of α-DG glycosylation causes retinal synapse defects (outer plexiform layer abnormalities, photoreceptor pedicle retraction) and axon guidance defects; importantly, these phenotypes depend on maternal pomt1 mRNA contribution, which can transiently sustain glycosylation early in development. (karas2024removalofpomt1 pages 6-7, karas2024removalofpomt1 pages 1-1)

3. Key molecular players (genes/proteins, chemicals, cells, anatomy)

3.1 Genes/proteins (causal/implicated)

Table: This table summarizes the core molecular machinery involved in the O-mannosylation pathway and matriglycan synthesis, mapping specific genes to their enzymatic functions and the mechanistic consequences of their disruption.

3.2 Chemical entities (relevance)

• Ribitol (BBP-418): substrate-supplementation strategy intended to boost ribitol-5P/CDP-ribitol availability and thereby improve α-DG functional glycosylation in FKRP-related disease. (NCT04800874 chunk 1, NCT05775848 chunk 1)
• CHIR-99021 (GSK3 inhibitor; Wnt pathway agonist): in a 2024 GMPPB dystroglycanopathy mouse model preprint, Wnt activation is reported to alleviate impaired myogenic differentiation/regeneration in GMPPB-deficient systems. (wang2024geneticallyengineeredmouse pages 37-41)

3.3 Key cell types (examples)

• Skeletal muscle satellite cells: impaired differentiation/regeneration implicated in GMPPB-associated dystroglycanopathy models. (wang2024geneticallyengineeredmouse pages 37-41)
• CCK+/CB1R+ inhibitory interneurons and hippocampal pyramidal neurons: synapse targeting and inhibitory transmission are selectively disrupted in severe dystroglycanopathy models. (jahncke2024inhibitorycck+basket pages 15-16, jahncke2024inhibitorycck+basket pages 1-2)
• Photoreceptors: retinal synapse architecture is disrupted with POMT1 loss in zebrafish. (karas2024removalofpomt1 pages 6-7, karas2024removalofpomt1 pages 10-11)

3.4 Anatomical locations

• Skeletal muscle (sarcolemma/basal lamina interface). (lu2024breakdownof pages 1-2)
• Hippocampus CA1 (perisomatic inhibitory synapses; seizure susceptibility). (jahncke2024inhibitorycck+basket pages 13-15)
• Retina outer plexiform layer (photoreceptor synapses). (karas2024removalofpomt1 pages 6-7, karas2024removalofpomt1 pages 10-11)

4. Biological processes and cellular components (ontology-ready)

Table: This table maps key pathophysiological mechanisms, cellular locations, and clinical features of dystroglycanopathy to standardized ontology terms (GO, CL, UBERON, HP), supported by recent evidence.

5. Disease progression model (sequence of events)

5.1 Initiating event

Biallelic variants in DAG1 or α-DG glycosylation pathway genes reduce matriglycan synthesis, decreasing ECM ligand binding. (cubilla2023dystroglycanopathiesgeneticbases pages 4-5, cubilla2023dystroglycanopathiesgeneticbases pages 7-8)

5.2 Early molecular/cellular consequences

• Reduced α-DG ligand binding (laminin/agrin/perlecan/pikachurin/neurexin binding axis). (cubilla2023dystroglycanopathiesgeneticbases pages 7-8, lu2024breakdownof pages 1-2)
• Failure of synaptic organizing functions in specific neural circuits when glycosylation loss is severe (CCK+/CB1R+ synapses). (jahncke2024inhibitorycck+basket pages 15-16, jahncke2024inhibitorycck+basket pages 13-15)

5.3 Tissue remodeling and clinical emergence

• In muscle, repeated contraction-induced injury triggers cycles of degeneration and regeneration; FKRP-related disease exhibits mosaic/heterogeneous matriglycan with revertant/regenerating fibers, complicating biopsy-based biomarker-to-phenotype correlation. (lu2024breakdownof pages 1-2, lu2024breakdownof pages 2-4)
• In zebrafish POMT1 loss, maternal transcript buffering delays onset; complete loss of α-DG glycosylation correlates with phenotype onset and reduced survival (e.g., KOHet begin dying by ~30 dpf with no survivors past ~70 days). (karas2024removalofpomt1 pages 7-8)

6. Phenotypic manifestations (mechanism-linked)

6.1 Musculoskeletal

FKRP cohort (India, 2023): among 9 unrelated patients with FKRP mutations, CK ranged 2,793–32,396 U/L (mean 12,120 U/L); 3 had lost ambulation by last follow-up (median age ~7 years, range 6.5–9), and 3 never achieved independent ambulation, showing clinically meaningful variability even within one gene. (unnikrishnan2023phenotypegenotypecharacterization pages 1-3)

6.2 Neurologic

Seizure susceptibility in severe murine forebrain dystroglycanopathy models aligns with selective inhibitory synapse defects; seizure latency reductions of ~33–43% are reported depending on genotype (see Section 2.3). (jahncke2024inhibitorycck+basket pages 13-15, jahncke2024inhibitorycck+basket pages 15-16)

6.3 Ocular

Retinal synapse loss and photoreceptor structural defects are demonstrated after POMT1 loss in zebrafish, consistent with the role of matriglycan-dependent α-DG interactions in eye development and synapse maintenance. (karas2024removalofpomt1 pages 6-7, karas2024removalofpomt1 pages 10-11)

7. Recent developments (2023–2024) and latest research

Table: This table summarizes significant primary studies, reviews, and clinical trials from 2023 and 2024 that have advanced the understanding of dystroglycanopathy pathophysiology, diagnosis, and treatment.

Key themes from 2023–2024 literature: 1) Circuit-level neurobiology: severe dystroglycan glycosylation loss causes selective inhibitory synapse defects (CCK+/CB1R+) and seizure vulnerability, separating synapse-organizing roles from gross migration defects in some contexts. (jahncke2024inhibitorycck+basket pages 15-16, jahncke2024inhibitorycck+basket pages 17-18) 2) Developmental timing: maternal mRNA/protein contribution can mask early phenotypes in zebrafish; true maternal-zygotic knockouts reveal early retinal/axon guidance and NMJ deficits. (karas2024removalofpomt1 pages 6-7, karas2024removalofpomt1 pages 1-1) 3) Biomarker modernization: validated quantitative multiplex fluorescence western blot provides a practical method to measure glycosylated vs core α-DG in small biopsies, supporting trials/longitudinal monitoring. (rajasingham2024validationofa pages 1-2, rajasingham2024validationofa pages 12-13) 4) Mechanisms beyond ECM linkage: GMPPB deficiency links glycosylation defects to altered intracellular programs (Ca2+ handling, Wnt/β-catenin signaling) and impaired myogenic differentiation, highlighting modifiers and downstream targets. (wang2024geneticallyengineeredmouse pages 37-41)

8. Current applications and real-world implementations

8.1 Diagnostics and biomarkers

A 2024 validated assay quantifies glycosylated and core α-DG from tibialis anterior biopsies using dual-channel fluorescence western blot with IIH6C4 (functional matriglycan epitope) and a core α-DG antibody, with calibration curves and an estimated LLOQ of ~1 µg total protein (estimated detection ~13 pg α-DG). (rajasingham2024validationofa pages 2-4, rajasingham2024validationofa pages 12-13)

8.2 Therapeutic development (clinical trials)

Ribitol (BBP-418) - Phase 3, randomized placebo-controlled trial in LGMD2I/R9: NCT05775848 (start 2023-05-31), Phase 3, 81 planned participants, primary endpoint: change from baseline in North Star Assessment for Limb Girdle Muscular Dystrophy at 36 months; key secondary outcomes include 10m walk velocity and FVC%. (NCT05775848 chunk 1) - Phase 2 open-label trial: NCT04800874 (start 2021-02-18), 14 participants; includes PK/PD and biopsy-based assessments (including N-terminal α-DG measures and tibialis anterior biopsy). (NCT04800874 chunk 1)

FKRP gene therapy (AAV9-based; examples) - ATA-100 (GNT0006): NCT05224505, Phase 1, open dose-escalation, 6 participants, start 2022-09-01, endpoints include safety plus functional tests, MRI, and biopsy glycosylation measures. (NCT05224505 chunk 1) - AB-1003 (LION-101): NCT05230459, recruiting; includes Phase 1 dose escalation and adaptive Phase 2, start 2023-05-15, estimated 10 participants, primary endpoint safety over 52 weeks. (NCT05230459 chunk 1)

8.3 Therapeutic development (preclinical implementation)

A 2024 Molecular Therapy study demonstrates a dual-gene AAV approach (FKRP + follistatin) in FKRP P448L mice: - Restores IIH6-detected α-DG glycosylation with band shift toward ~156 kDa and increased IIH6-positive fibers in diaphragm/heart with dual therapy versus FKRP alone (with reported significance for diaphragm). (lam2024dualfkrpfstgene pages 7-8, lam2024dualfkrpfstgene media f92354a7) - Quantitatively, at 6 months the high-dose dual vector increased muscle FKRP protein from ~9.7±1.4-fold (FKRP alone) to 109±59-fold (dual), and increased serum human follistatin to 39.7±8.0 ng/mL (dual) versus ~6.4±2.2 ng/mL (FST alone). (lam2024dualfkrpfstgene pages 7-8)

9. Expert analysis and interpretation (mechanistic uncertainties and consensus)

9.1 Why matriglycan level is an imperfect severity biomarker (FKRP example)

A 2024 review argues that many FKRP missense variants retain partial function, and matriglycan expression may be preserved or re-expressed during later development and especially during regeneration, creating mosaic patterns and sampling bias in biopsies; this can produce weak or inconsistent correlations between matriglycan levels and clinical severity. (lu2024breakdownof pages 1-2, lu2024breakdownof pages 2-4)

The same review recommends fiber-level quantification (e.g., ImageJ Multi Point membrane intensity measures, exclusion/stratification of regenerating fibers, ≥100 fibers) alongside complementary bulk approaches (western blot) to improve interpretability for trials. (lu2024breakdownof pages 6-8, lu2024breakdownof pages 8-9)

9.2 Threshold model for neurologic phenotypes

The 2024 eLife study supports a “glycosylation threshold” concept where severe hypoglycosylation (forebrain Dag1 or Pomt2 loss) yields functional inhibitory synapse defects and seizure vulnerability, whereas partial hypoglycosylation can preserve synaptic function. (jahncke2024inhibitorycck+basket pages 15-16, jahncke2024inhibitorycck+basket pages 13-15)

10. Evidence items (PMIDs and direct quotes)

10.1 PMIDs

Most 2023–2024 sources retrieved here did not include PMIDs in the extracted text, and this RAG run did not retrieve PubMed metadata fields for them. One indirect PMID signal exists via Open Targets evidence (e.g., POMT1 association including PMID 38272461), but those outputs are not part of the citable paper text context for this report. Therefore, PMIDs should be added by external PubMed lookup using the DOIs/URLs provided in this report. (benarroch2024the2024version pages 8-9)

10.2 Direct quote (example)

A 2024 FKRP review emphasizes the interpretability issue of biopsy matriglycan: biopsies can show “fibers of very weak matriglycan and clusters of RFs with strong matriglycan expression,” highlighting mosaicism and the need for robust quantification. (lu2024breakdownof pages 8-9)

Appendix A. Key figures (visual evidence)

• Western blot IIH6 restoration band shift and tissue quantification panels for dual FKRP/FST gene therapy are provided in the Lam et al. 2024 figures captured here. (lam2024dualfkrpfstgene media f92354a7, lam2024dualfkrpfstgene media 72380d56)

References

1. (cubilla2023dystroglycanopathiesgeneticbases pages 4-5): M.A. Cubilla, G.M. Papazoglu, and C.G. Asteggiano. Dystroglycanopathies: genetic bases of muscular dystrophies due to alteration in the o-glycosylation of α-dystroglycan. Journal of Inborn Errors of Metabolism and Screening, Apr 2023. URL: https://doi.org/10.1590/2326-4594-jiems-2022-0005, doi:10.1590/2326-4594-jiems-2022-0005. This article has 3 citations.

2. (cubilla2023dystroglycanopathiesgeneticbases pages 3-4): M.A. Cubilla, G.M. Papazoglu, and C.G. Asteggiano. Dystroglycanopathies: genetic bases of muscular dystrophies due to alteration in the o-glycosylation of α-dystroglycan. Journal of Inborn Errors of Metabolism and Screening, Apr 2023. URL: https://doi.org/10.1590/2326-4594-jiems-2022-0005, doi:10.1590/2326-4594-jiems-2022-0005. This article has 3 citations.

3. (benarroch2024the2024version pages 8-9): Louise Benarroch, Gisèle Bonne, François Rivier, and Dalil Hamroun. The 2024 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscular Disorders, 34:126-170, Jan 2024. URL: https://doi.org/10.1016/j.nmd.2023.12.007, doi:10.1016/j.nmd.2023.12.007. This article has 32 citations and is from a peer-reviewed journal.

4. (cubilla2023dystroglycanopathiesgeneticbases pages 8-9): M.A. Cubilla, G.M. Papazoglu, and C.G. Asteggiano. Dystroglycanopathies: genetic bases of muscular dystrophies due to alteration in the o-glycosylation of α-dystroglycan. Journal of Inborn Errors of Metabolism and Screening, Apr 2023. URL: https://doi.org/10.1590/2326-4594-jiems-2022-0005, doi:10.1590/2326-4594-jiems-2022-0005. This article has 3 citations.

5. (cubilla2023dystroglycanopathiesgeneticbases pages 7-8): M.A. Cubilla, G.M. Papazoglu, and C.G. Asteggiano. Dystroglycanopathies: genetic bases of muscular dystrophies due to alteration in the o-glycosylation of α-dystroglycan. Journal of Inborn Errors of Metabolism and Screening, Apr 2023. URL: https://doi.org/10.1590/2326-4594-jiems-2022-0005, doi:10.1590/2326-4594-jiems-2022-0005. This article has 3 citations.

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8. (lu2024breakdownof pages 1-2): Qi L. Lu, Molly C. Holbrook, Marcela P. Cataldi, and Anthony Blaeser. Break down of the complexity and inconsistency between levels of matriglycan and disease phenotype in fkrp-related dystroglycanopathies: a review and model of interpretation. Journal of Neuromuscular Diseases, 11:275-284, Jan 2024. URL: https://doi.org/10.3233/jnd-230205, doi:10.3233/jnd-230205. This article has 2 citations and is from a peer-reviewed journal.

9. (koff2023proteinomannosylationone pages 5-6): Melissa Koff, Pedro Monagas-Valentin, Boris Novikov, Ishita Chandel, and Vladislav Panin. Protein o-mannosylation: one sugar, several pathways, many functions. Glycobiology, 33:911-926, Aug 2023. URL: https://doi.org/10.1093/glycob/cwad067, doi:10.1093/glycob/cwad067. This article has 17 citations and is from a peer-reviewed journal.

10. (lu2024breakdownof pages 9-10): Qi L. Lu, Molly C. Holbrook, Marcela P. Cataldi, and Anthony Blaeser. Break down of the complexity and inconsistency between levels of matriglycan and disease phenotype in fkrp-related dystroglycanopathies: a review and model of interpretation. Journal of Neuromuscular Diseases, 11:275-284, Jan 2024. URL: https://doi.org/10.3233/jnd-230205, doi:10.3233/jnd-230205. This article has 2 citations and is from a peer-reviewed journal.

11. (NCT00313677 chunk 2): Katherine Mathews. Clinical Trial Readiness for the Dystroglycanopathies. Katherine Mathews. 2006. ClinicalTrials.gov Identifier: NCT00313677

12. (jahncke2024inhibitorycck+basket pages 1-2): Jennifer N Jahncke, Daniel S Miller, Milana Krush, Eric Schnell, and Kevin M Wright. Inhibitory cck+ basket synapse defects in mouse models of dystroglycanopathy. eLife, Jan 2024. URL: https://doi.org/10.7554/elife.87965, doi:10.7554/elife.87965. This article has 8 citations and is from a domain leading peer-reviewed journal.

13. (jahncke2024inhibitorycck+basket pages 15-16): Jennifer N Jahncke, Daniel S Miller, Milana Krush, Eric Schnell, and Kevin M Wright. Inhibitory cck+ basket synapse defects in mouse models of dystroglycanopathy. eLife, Jan 2024. URL: https://doi.org/10.7554/elife.87965, doi:10.7554/elife.87965. This article has 8 citations and is from a domain leading peer-reviewed journal.

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26. (karas2024removalofpomt1 pages 3-4): Brittany F Karas, Kristin R Terez, Shorbon Mowla, Namarata Battula, Kyle P Flannery, Brian M Gural, Grace Aboussleman, Numa Mubin, and M Chiara Manzini. Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes. Human Molecular Genetics, 33:709-723, Jan 2024. URL: https://doi.org/10.1093/hmg/ddae006, doi:10.1093/hmg/ddae006. This article has 8 citations and is from a domain leading peer-reviewed journal.

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29. (karas2024removalofpomt1 pages 7-8): Brittany F Karas, Kristin R Terez, Shorbon Mowla, Namarata Battula, Kyle P Flannery, Brian M Gural, Grace Aboussleman, Numa Mubin, and M Chiara Manzini. Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes. Human Molecular Genetics, 33:709-723, Jan 2024. URL: https://doi.org/10.1093/hmg/ddae006, doi:10.1093/hmg/ddae006. This article has 8 citations and is from a domain leading peer-reviewed journal.

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36. (rajasingham2024validationofa pages 8-10): Thulashitha Rajasingham, Hector M. Rodriguez, Andreas Betz, Douglas M. Sproule, and Uma Sinha. Validation of a novel western blot assay to monitor patterns and levels of alpha dystroglycan in skeletal muscle of patients with limb girdle muscular dystrophies. Journal of Muscle Research and Cell Motility, 45:123-138, Apr 2024. URL: https://doi.org/10.1007/s10974-024-09670-y, doi:10.1007/s10974-024-09670-y. This article has 3 citations and is from a peer-reviewed journal.

37. (jahncke2024inhibitorycck+basket pages 17-18): Jennifer N Jahncke, Daniel S Miller, Milana Krush, Eric Schnell, and Kevin M Wright. Inhibitory cck+ basket synapse defects in mouse models of dystroglycanopathy. eLife, Jan 2024. URL: https://doi.org/10.7554/elife.87965, doi:10.7554/elife.87965. This article has 8 citations and is from a domain leading peer-reviewed journal.

38. (rajasingham2024validationofa pages 12-13): Thulashitha Rajasingham, Hector M. Rodriguez, Andreas Betz, Douglas M. Sproule, and Uma Sinha. Validation of a novel western blot assay to monitor patterns and levels of alpha dystroglycan in skeletal muscle of patients with limb girdle muscular dystrophies. Journal of Muscle Research and Cell Motility, 45:123-138, Apr 2024. URL: https://doi.org/10.1007/s10974-024-09670-y, doi:10.1007/s10974-024-09670-y. This article has 3 citations and is from a peer-reviewed journal.

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