Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms of HPDL-Related Neurological Disorders.

International journal of molecular sciences - 2 Oct 2024

Baggiani Matteo, Damiani Devid, Privitera Flavia, Della Vecchia Stefania, Tessa Alessandra, Santorelli Filippo Maria

Abstract excerpt

Hereditary spastic paraplegias are rare genetic disorders characterized by corticospinal tract impairment. Spastic paraplegia 83 (SPG83) is associated with biallelic mutations in the HPDL gene, leading to varied severities from neonatal to juvenile onset. The function of HPDL is unclear, though it is speculated to play a role in alternative coenzyme Q10 biosynthesis. Here, we report the generation of hiPS lines...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Mutation
Share to Cell Differentiation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Line

Share to Fibroblasts

Share to Induced Pluripotent Stem Cells

Share to Neurons

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 39408944
DOI: 10.3390/ijms251910614
PMCID: PMC11477155

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms of HPDL-Related Neurological Disorders.PMID 39408944Read ↗

An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines.Semantic proximity Read ↗

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5).Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line from a patient with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): HIHCNi003-A.Semantic proximity Read ↗

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5).Semantic proximity Read ↗

Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient.Semantic proximity Read ↗

The translational potential of human induced pluripotent stem cells for clinical neurology : The translational potential of hiPSCs in neurology.Semantic proximity Read ↗

Generation and characterization of iPSC lines (UOHi003-A, UOHi002-A) from a patient with SHANK3 mutation and her healthy mother.Semantic proximity Read ↗

Generation of six hiPSC lines from patients with WDR45-related neurodegenerative disease (Beta-propeller Protein-Associated Neurodegeneration, BPAN).Semantic proximity Read ↗

Establishment of a novel human iPSC line (SDQLCHi032-A) derived from a patient with primary hypertrophic osteoarthropathy caused by HPGD homozygous mutation.Semantic proximity Read ↗

Control iPSC lines with clinically annotated genetic variants for versatile multi-lineage differentiationSemantic proximity Read ↗

Accelerated High-Yield Generation of Limb-Innervating Motor Neurons from Human Stem CellsSemantic proximity Read ↗

Generation and characterization of iPSC lines (UOHi001-A, UOHi002-A) From a patient with SHANK3 mutation and her healthy motherSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.