MT-ND4L

Summary

MT-ND4L (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L, HGNC:7460) is a protein-coding gene on chromosome mitochondria, encoding NADH-ubiquinone oxidoreductase chain 4L (P03901). Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor.

Enables NADH dehydrogenase (ubiquinone) activity. Predicted to be involved in mitochondrial electron transport, NADH to ubiquinone and proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrial inner membrane. Part of respiratory chain complex I. Implicated in Leber hereditary optic neuropathy and diabetes mellitus.

Source: NCBI Gene 4539 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Leber hereditary optic neuropathy (Supportive, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 34 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 28
• Druggable target: yes

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7460
Approved symbol	MT-ND4L
Name	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
Location	mitochondria
Locus type	gene with protein product
Status	Approved
Aliases	ND4L, NAD4L
Ensembl gene	ENSG00000212907
Ensembl biotype	protein_coding
OMIM	516004
Entrez	4539

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000361335

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000361335 — 1 exons

Exon	Start	End
ENSE00001596097	10470	10766

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 713.5706 / max 153161.6599, expressed in 1822 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194924	713.5706	1822

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
rectum	UBERON:0001052	99.99	gold quality
cortex of kidney	UBERON:0001225	99.99	gold quality
apex of heart	UBERON:0002098	99.99	gold quality
primary visual cortex	UBERON:0002436	99.99	gold quality
superior frontal gyrus	UBERON:0002661	99.99	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.99	gold quality
adipose tissue	UBERON:0001013	99.98	gold quality
right lobe of liver	UBERON:0001114	99.98	gold quality
right lobe of thyroid gland	UBERON:0001119	99.98	gold quality
smooth muscle tissue	UBERON:0001135	99.98	gold quality
transverse colon	UBERON:0001157	99.98	gold quality
fundus of stomach	UBERON:0001160	99.98	gold quality
mucosa of stomach	UBERON:0001199	99.98	gold quality
right adrenal gland	UBERON:0001233	99.98	gold quality
left adrenal gland	UBERON:0001234	99.98	gold quality
endometrium	UBERON:0001295	99.98	gold quality
right uterine tube	UBERON:0001302	99.98	gold quality
left uterine tube	UBERON:0001303	99.98	gold quality
gastrocnemius	UBERON:0001388	99.98	gold quality
temporal lobe	UBERON:0001871	99.98	gold quality
caudate nucleus	UBERON:0001873	99.98	gold quality
putamen	UBERON:0001874	99.98	gold quality
amygdala	UBERON:0001876	99.98	gold quality
nucleus accumbens	UBERON:0001882	99.98	gold quality
hypothalamus	UBERON:0001898	99.98	gold quality
Ammon’s horn	UBERON:0001954	99.98	gold quality
cerebellum	UBERON:0002037	99.98	gold quality
substantia nigra	UBERON:0002038	99.98	gold quality
heart left ventricle	UBERON:0002084	99.98	gold quality
cerebellar cortex	UBERON:0002129	99.98	gold quality

Single-cell (SCXA)

Detected in 30 experiment(s), a significant marker in 16.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	27654.73
E-CURD-77	yes	18758.26
E-CURD-84	yes	16670.44
E-CURD-88	yes	14982.94
E-CURD-120	yes	9881.27
E-MTAB-5061	yes	6043.10
E-MTAB-6678	yes	5429.11
E-MTAB-7316	yes	1713.26
E-GEOD-86618	yes	1712.63
E-MTAB-8205	yes	1706.55
E-CURD-112	yes	26.99
E-GEOD-125970	yes	26.92
E-HCAD-31	yes	24.07
E-GEOD-137537	yes	18.43
E-GEOD-130148	yes	9.23

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Point mutation of PCLN-1 is associated with familial hypomagnesemia with hypercalciuria (PMID:17123117)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	mt-Nd4l	ENSMUSG00000065947
rattus_norvegicus	Mt-nd4l	ENSRNOG00000031053

Protein

Protein identifiers

NADH-ubiquinone oxidoreductase chain 4L — P03901 (reviewed: P03901)

Alternative names: NADH dehydrogenase subunit 4L

All UniProt accessions (2): P03901, Q7GXZ4

UniProt curated annotations — full annotation on UniProt →

Function. Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor. Part of the enzyme membrane arm which is embedded in the lipid bilayer and involved in proton translocation.

Subunit / interactions. Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits.

Subcellular location. Mitochondrion inner membrane.

Disease relevance. Leber hereditary optic neuropathy (LHON) [MIM:535000] A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the complex I subunit 4L family.

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001133	NADH_UbQ_OxRdtase_chain4L/K	Family
IPR039428	NUOK/Mnh_C1-like	Family

Pfam: PF00420

Catalyzed reactions (Rhea), 1 shown:

• a ubiquinone + NADH + 5 H(+)(in) = a ubiquinol + NAD(+) + 4 H(+)(out) (RHEA:29091)

UniProt features (9 total): sequence variant 5, transmembrane region 3, chain 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
9I4I	ELECTRON MICROSCOPY	2.63
9TI4	ELECTRON MICROSCOPY	2.66
9CWT	ELECTRON MICROSCOPY	3.44
5XTC	ELECTRON MICROSCOPY	3.7
5XTD	ELECTRON MICROSCOPY	3.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P03901-F1	88.22	0.55

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5419276	Mitochondrial translation termination

MSigDB gene sets: 161 (showing top): GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_ATP_BIOSYNTHETIC_PROCESS, GOBP_OXIDATIVE_PHOSPHORYLATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ELECTRON_TRANSPORT_CHAIN, GOCC_MITOCHONDRIAL_ENVELOPE, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY

GO Biological Process (5): mitochondrial electron transport, NADH to ubiquinone (GO:0006120), aerobic respiration (GO:0009060), proton motive force-driven mitochondrial ATP synthesis (GO:0042776), ATP synthesis coupled electron transport (GO:0042773), proton transmembrane transport (GO:1902600)

GO Molecular Function (3): NADH dehydrogenase (ubiquinone) activity (GO:0008137), oxidoreductase activity, acting on NAD(P)H (GO:0016651), oxidoreductase activity (GO:0016491)

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), respiratory chain complex I (GO:0045271), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Mitochondrial translation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
oxidative phosphorylation	2
aerobic electron transport chain	1
mitochondrial ATP synthesis coupled electron transport	1
cellular respiration	1
mitochondrion	1
proton motive force-driven ATP synthesis	1
respiratory electron transport chain	1
monoatomic cation transmembrane transport	1
NADH dehydrogenase activity	1
electron transfer activity	1
proton transmembrane transporter activity	1
oxidoreduction-driven active transmembrane transporter activity	1
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	1
active monoatomic ion transmembrane transporter activity	1
oxidoreductase activity	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
NADH dehydrogenase complex	1
respiratory chain complex	1
transmembrane transporter complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1321 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MT-ND4L	MT-ND6	P03923	999
MT-ND4L	MT-ND1	P03886	999
MT-ND4L	MT-ND2	P03891	999
MT-ND4L	MT-ND3	P03897	999
MT-ND4L	MT-ND4	P03905	999
MT-ND4L	MT-ND5	P03915	999
MT-ND4L	MT-ATP6	P00846	974
MT-ND4L	MT-ATP8	P03928	974
MT-ND4L	MT-CYB	P00156	971
MT-ND4L	MT-CO3	P00414	953
MT-ND4L	MT-CO1	P00395	919
MT-ND4L	MT-CO2	P00403	915
MT-ND4L	PTGS1	P23219	885
MT-ND4L	NDUFB6	O95139	788
MT-ND4L	NDUFS7	O75251	744

IntAct

5 interactions, top by confidence:

A	B	Type	Score
rep	MT-ND4L	psi-mi:“MI:0915”(physical association)	0.370
STAT1	MT-ND4L	psi-mi:“MI:0915”(physical association)	0.370
ABHD16A	MT-ND4L	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (5): ND4L (PCA), ND4L (Affinity Capture-RNA), ND4L (Two-hybrid), ND4L (Affinity Capture-RNA), STAT1 (Two-hybrid)

ESM2 similar proteins: O03203, O21787, O78754, O79435, P03901, P24976, P48931, P56632, P61795, P61796, Q072K5, Q09EG3, Q15GS3, Q2V091, Q2V0A4, Q34572, Q35588, Q37809, Q3L6V0, Q3L6Z6, Q3L708, Q3LR84, Q598U3, Q5BU90, Q5I195, Q69B76, Q69B78, Q69B80, Q69B84, Q6EMS3, Q70RM6, Q70RN9, Q70S06, Q70S19, Q71RU5, Q7HLD2, Q7IVV2, Q7IVV3, Q7Y8E7, Q7YBC1

Diamond homologs: O03172, O03203, O21405, O21787, O79409, O99602, P03901, P18942, P23633, P24976, P34193, P48658, P67783, P67784, P69302, P69303, P69304, P69305, P69306, P69307, P92483, Q08GU6, Q08HF4, Q08HK6, Q15GM1, Q15GP7, Q15GR0, Q1AL67, Q1HUW0, Q1HUX2, Q1HUX8, Q1HUY4, Q1HUZ6, Q1HUZ9, Q1HV02, Q1HV05, Q1HV14, Q1HV23, Q1HV29, Q1HV35

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
“Non-structural protein 10”	“down-regulates activity”	MT-ND4L	binding
MT-ND4L	“form complex”	“NADH-ubiquinone oxidoreductase-Mitochondrial respiratory chain complex I”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

34 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	14
Likely benign	9
Benign	6

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
430682	NC_012920.1(MT-TS2):m.8815_13722del	Pathogenic
9707	NC_012920.1(MT-ND4L):m.10663T>C	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

618 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
M:10572:G:C	G35R	0.977
M:10689:G:C	G74R	0.976
M:10684:C:A	A72E	0.962
M:10590:T:C	F41L	0.961
M:10592:C:A	F41L	0.961
M:10592:C:G	F41L	0.961
M:10521:G:C	G18R	0.958
M:10563:T:C	C32R	0.957
M:10690:G:A	G74D	0.954
M:10570:A:T	E34V	0.951
M:10693:T:C	L75P	0.944
M:10683:G:C	A72P	0.941
M:10674:T:C	C69R	0.939
M:10573:G:A	G35E	0.938
M:10672:C:A	A68D	0.938
M:10513:C:G	S15W	0.934
M:10558:T:A	L30Q	0.932
M:10669:C:A	A67D	0.932
M:10693:T:A	L75Q	0.931
M:10572:G:T	G35W	0.928
M:10565:C:A	C32W	0.926
M:10565:C:G	C32W	0.926
M:10648:C:G	P60R	0.925
M:10761:T:C	C98R	0.924
M:10699:T:C	L77P	0.923
M:10571:A:C	E34D	0.921
M:10571:A:T	E34D	0.921
M:10503:T:C	F12L	0.919
M:10505:T:A	F12L	0.919
M:10505:T:G	F12L	0.919

dbSNP variants (sampled 300 via entrez): RS1057516063 (MT:9166 T>C), RS1057516064 (MT:9237 G>A), RS1057520074 (MT:10499 A>G), RS1057520079 (MT:9091 A>G), RS1057520102 (MT:8816 A>G), RS1057520204 (MT:8943 C>T), RS1064597 (MT:8647 C>G), RS112133961 (MT:10127 A>G), RS121434456 (MT:10438 A>G), RS121434475 (MT:9997 T>A,C), RS121434476 (MT:10010 T>C), RS1553140066 (MT:9247 G>A,C), RS1556423467 (MT:8470 A>G,T), RS1556423473 (MT:8488 C>G,T), RS1556423474 (MT:8497 A>G)

Disease associations

OMIM: gene MIM:516004 | disease phenotypes: MIM:256000, MIM:535000

GenCC curated gene-disease

Disease	Classification	Inheritance
Leber hereditary optic neuropathy	Supportive	Mitochondrial

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
mitochondrial disease	Limited	MT

Mondo (4): mitochondrial disease (MONDO:0044970), Leigh syndrome (MONDO:0009723), familial colorectal cancer (MONDO:0023113), Leber hereditary optic neuropathy (MONDO:0010788)

Orphanet (3): Mitochondrial disease (Orphanet:68380), Leigh syndrome (Orphanet:506), Leber hereditary optic neuropathy (Orphanet:104)

HPO phenotypes

28 total (28 of 28 shown, HPO-id order):

HPO	Term
HP:0000512	Abnormal electroretinogram
HP:0000529	Progressive visual loss
HP:0000551	Color vision defect
HP:0000572	Visual loss
HP:0000576	Centrocecal scotoma
HP:0000603	Central scotoma
HP:0000622	Blurred vision
HP:0000648	Optic atrophy
HP:0000649	Abnormality of visual evoked potentials
HP:0001112	Leber optic atrophy
HP:0001138	Optic neuropathy
HP:0001251	Ataxia
HP:0001271	Polyneuropathy
HP:0001332	Dystonia
HP:0001427	Mitochondrial inheritance
HP:0002174	Postural tremor
HP:0003198	Myopathy
HP:0003829	Typified by incomplete penetrance
HP:0004309	Ventricular preexcitation
HP:0007763	Retinal telangiectasia
HP:0007768	Central retinal vessel vascular tortuosity
HP:0007924	Slow decrease in visual acuity
HP:0009830	Peripheral neuropathy
HP:0011675	Arrhythmia
HP:0012841	Retinal vascular tortuosity
HP:0020120	Retinal nerve fiber edema
HP:0032036	Reduced contrast sensitivity
HP:0200125	Mitochondrial respiratory chain defects

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D007888	Leigh Disease	C10.228.140.163.100.412; C16.320.565.189.412; C16.320.565.202.810.444; C18.452.132.100.412; C18.452.648.189.412; C18.452.648.202.810.444; C18.452.660.520
D029242	Optic Atrophy, Hereditary, Leber	C10.292.700.225.500.400; C10.574.500.662.400; C11.270.564.400; C11.640.451.451.400; C16.320.290.564.400; C16.320.400.630.400; C18.452.660.670

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2363065 (PROTEIN COMPLEX)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2853826	MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5	3	2.00	1	efavirenz;lopinavir;Nucleoside and nucleotide reverse transcriptase inhibitors;ritonavir

ChEMBL bioactivities

8 potent at pChembl≥5 of 18 total, top 8 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.06	IC50	870	nM	R-(+)-MARMIN-6’-UNDECANOATE
6.04	IC50	920	nM	R-(+)-MARMIN-6’-LINOLEATE
5.63	IC50	2350	nM	R-(+)-MARMIN-6’-LINOLEATE
5.51	IC50	3080	nM	R-(+)-MARMIN-6’-OCTANOATE
5.43	IC50	3670	nM	R-(+)-MARMIN-6’-UNDECANOATE
5.43	IC50	3710	nM	R-(+)-MARMIN-6’-OCTANOATE
5.31	IC50	4900	nM	(+)-9’-ISOVALEROXYLARICIRESINOL
5.04	IC50	9100	nM	(+)-9’-ISOVALEROXYLARICIRESINOL

PubChem BioAssay actives

8 with measured affinity, of 28 total; 4 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
[(E,3R)-2-hydroxy-2,6-dimethyl-8-(2-oxochromen-7-yl)oxyoct-6-en-3-yl] undecanoate	739270: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay	ic50	0.8700	uM
[(E,3R)-2-hydroxy-2,6-dimethyl-8-(2-oxochromen-7-yl)oxyoct-6-en-3-yl] (9Z,12Z)-octadeca-9,12-dienoate	739270: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay	ic50	0.9200	uM
[(E,3R)-2-hydroxy-2,6-dimethyl-8-(2-oxochromen-7-yl)oxyoct-6-en-3-yl] octanoate	739270: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay	ic50	3.0800	uM
[(2S,3R,4R)-2-(4-hydroxy-3-methoxyphenyl)-4-[(4-hydroxy-3-methoxyphenyl)methyl]oxolan-3-yl]methyl 3-methylbutanoate	739269: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1,10-phenanthroline-induced HIF1 activation incubated for 30 mins prior to 1,10-phenanthroline-challenge measured after 16 hrs by luciferase reporter assay	ic50	4.9000	uM

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
beauvericin	affects cotreatment, increases expression, decreases expression	3
enniatins	affects cotreatment, increases expression, decreases expression	3
Air Pollutants	decreases expression, increases abundance	2
Atrazine	decreases expression	2
Plant Extracts	affects cotreatment, increases expression	2
1-Methyl-4-phenylpyridinium	decreases expression, decreases reaction	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	increases expression	1
bisphenol A	decreases expression	1
ochratoxin A	affects cotreatment, increases expression	1
aflatoxin G1	affects cotreatment, increases expression	1
aflatoxin B2	increases expression, affects cotreatment	1
aflatoxin G2	affects cotreatment, increases expression	1
1-methyl-4-phenyl-2,3-dihydropyridinium	decreases expression	1
arsenic trichloride	increases abundance, increases expression	1
licochalcone B	decreases expression	1
Arsenic	increases abundance, increases expression	1
Cadmium	increases abundance, increases expression	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	affects expression, affects response to substance	1
Smoke	decreases expression, increases abundance	1
Dronabinol	increases expression	1
Tunicamycin	decreases expression	1
Urethane	increases expression	1
Valproic Acid	decreases expression	1
Zearalenone	affects cotreatment, increases expression	1
Aflatoxin B1	affects cotreatment, increases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Thapsigargin	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

ChEMBL screening assays

4 unique, capped per target: 4 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2353025	Binding	Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation at 30 uM incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay	Semisynthetic studies identify mitochondria poisons from botanical dietary supplements–geranyloxycoumarins from Aegle marmelos. — Bioorg Med Chem

Cellosaurus cell lines

2 cell lines: 2 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D6I4	FINCBi005-A	Induced pluripotent stem cell	Male
CVCL_D6I5	FINCBi006-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

135 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT03351998	PHASE4	COMPLETED	Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity
NCT03293524	PHASE3	COMPLETED	Efficacy & Safety Study of Bilateral IVT Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year
NCT03406104	PHASE3	COMPLETED	RESCUE and REVERSE Long-term Follow-up
NCT07406854	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3, Multicenter, Randomized, Double-Masked, Sham-Controlled Clinical Trial for Leber’s Hereditary Optic Neuropathy (LHON) Associated With ND4 Mutation
NCT00432744	PHASE3	COMPLETED	Phase III Trial of Coenzyme Q10 in Mitochondrial Disease
NCT05162768	PHASE3	COMPLETED	Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)
NCT06451757	PHASE3	RECRUITING	KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
NCT02176733	PHASE2	UNKNOWN	Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy
NCT02398201	PHASE2	COMPLETED	A Study of Bezafibrate in Mitochondrial Myopathy
NCT02473445	PHASE2	TERMINATED	A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease
NCT02500628	PHASE2	COMPLETED	Heart Rate Variability in Response to Metformin Challenge
NCT02805790	PHASE2	COMPLETED	Safety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER Study
NCT02909400	PHASE2	COMPLETED	The KHENERGY Study
NCT02976038	PHASE2	TERMINATED	Open-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM)
NCT03177798	PHASE2	COMPLETED	Mitochondria and Chronic Kidney Disease
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NCT04604548	PHASE2	COMPLETED	The KHENEREXT Study
NCT04802707	PHASE2	RECRUITING	Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
NCT04846036	PHASE2	SUSPENDED	The KHENERGYC Study
NCT05650229	PHASE2	RECRUITING	Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease
NCT05972954	PHASE2	COMPLETED	OMT-28 in Patients With Primary Mitochondrial Disease (PMD) (PMD-OPTION)
NCT06017869	PHASE2	RECRUITING	Evaluate the Safety and Therapeutic Effects of a Single Intravenous Infusion (IV) of Autologous CD34+ Cells Enriched With Allogenic Placenta-derived Mitochondria in Patients With a Diagnosis of Pearson Syndrome (PS)
NCT07514338	PHASE2	NOT_YET_RECRUITING	Open Label Extension to Assess Long Term Safety and Efficacy of KL1333 in Patients With Primary Mitochondrial Disease
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NCT03747328	PHASE2	WITHDRAWN	ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome
NCT06843811	PHASE2	ENROLLING_BY_INVITATION	Sirolimus for Leigh Syndrome
NCT06990984	PHASE2	NOT_YET_RECRUITING	A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)
NCT02544217	PHASE1	COMPLETED	A Dose-escalating Clinical Trial With KH176
NCT07258667	PHASE1	NOT_YET_RECRUITING	Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber’s Hereditary Optic Neuropathy
NCT00060515	PHASE1	TERMINATED	RG2133 (2’,3’,5’-Tri-O-Acetyluridine) in Mitochondrial Disease
NCT02348125	PHASE1	UNKNOWN	Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)?
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NCT04086329	PHASE1	RECRUITING	Validation of Oxygen Nanosensor in Mitochondrial Myopathy
NCT04643249	PHASE1	COMPLETED	Drug-drug Interaction Study of KL1333 in Healthy Subjects
NCT05241262	PHASE1	RECRUITING	Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
NCT05569122	PHASE1	RECRUITING	Applying pGz in Mitochondrial Disease
NCT06819683	PHASE1	RECRUITING	Validation of Nanosensor Oxygen Measurement
NCT03153293	PHASE2/PHASE3	UNKNOWN	A Single Intravitreal Injection of rAAV2-ND4 for the Treatment of Leber’s Hereditary Optic Neuropathy