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MAT-0117 03/25

Clinical Studies

Acetyl-DL-leucine in two individuals with REM sleep behavior disorder improves symptoms, reverses loss of striatal dopamine-transporter binding and stabilizes pathological metabolic brain pattern-case reports
OERTEL, W.H., JANZEN, A., HENRICH, M.T., GEIBL, F.F., SITTIG, E., MELES, S.K., CARLI, G., LEENDERS, K., BOOJI, J., SURMEIER, J., TIMMERMANN, L., STRUPP, M.
Pub Med

N-ACETYL-L-LEUCINE AND NEURODEGENERATIVE DISEASE
TIFFT, C.J
Pub Med

IB1001 Pivotal Trial Published in NEJM
TATIANA BREMOVA-ERTL, M.D., PH.D., UMA RAMASWAMI, M.D., MARION BRANDS, M.D., TOMAS FOLTAN, M.D., MATTHIAS GAUTSCHI, M.D., PH.D., PAUL GISSEN, M.D., FRANCESCA GOWING, M.D., ANDREAS HAHN, M.D., SIMON JONES, M.D., RICHARD KAY, PH.D., MIRIAM KOLNIKOVA, M.D., PH.D., LAILA ARASH-KAPS, M.D., THORSTEN MARQUARDT, M.D., EUGEN MENGEL, M.D., JULIEN H. PARK, M.D., STELLA REICHMANNOVÁ, M.D., PH.D., SUSANNE A. SCHNEIDER, M.D., SIYAMINI SIVANANTHAN, M.D., MARK WALTERFANG, M.D., PH.D., D.MED.SCI., PIERRE WIBAWA, M.D., MICHAEL STRUPP, M.D., AND KYRIAKOS MARTAKIS, M.D.
Pub Med

N-ACETYL-L-LEUCINE FOR NIEMANN-PICK TYPE C: A MULTINATIONAL DOUBLE-BLIND RANDOMIZED PLACEBO-CONTROLLED CROSSOVER STUDY
FIELDS, T., BREMOVA-ERTL, T., BILLINGTON, I., CHURCHILL, G.C., EVANS, W., FIELDS, C., GALIONE, A., KAY, R., MATHIESON, T., MARTAKIS, K., PATTERSON, M., PLATT, F., FACTOR, M., STRUPP, M.
Pub Med

ACETYL-DL-LEUCINE IN COMBINATION WITH MEMANTINE IMPROVES ACQUIRED PENDULAR NYSTAGMUS CAUSED BY MULTIPLE SCLEROSIS: A CASE REPORT
KREMMYDA, O., FEIL, K., BARDINS,S., STRUPP, M.
Pub Med

THE EFECTS OF N‑ACETYL‑L‑LEUCINE ON THE IMPROVEMENT OF SYMPTOMS IN A PATIENT WITH MULTIPLE SULFATASE DEFCIENCY
SABERI-KARIMIAN, M., HOURA, M. JAMIALAHMADI, T., SARVGHADI, P., NIKBAF, M., AKHLAGHI, S., SAHEBKAR, A.
Pub Med

THE EFFECT OF N-ACETYL-DL-LEUCINE ON NEUROLOGICAL SYMPTOMS IN A PATIENT WITH ATAXIA-TELANGIECTASIA: A CASE STUDY
SABERI-KARIMIAN, M., BEYRAGHI-TOUSI, M., MIRZADEH, M. GUMPRICHT, E., SAHEBKAR, A.
Pub Med

EFFECTS OF ACETYL-DL-LEUCINE ON ATAXIA AND DOWNBEAT-NYSTAGMUS IN SIX PATIENTS WITH ATAXIA TELANGIECTASIA
BRUEGGEMANN, A., BICVIC, A., GOELDLIN, M., KALLA, R., KERKENI, H., MANTOKOUDIS, G., ABEGG, M., KOLNIKOVA, M., MOHAUPT, M., BREMOVA-ERTL, T.
Pub Med

EFFICACY AND SAFETY OF N-ACETYL-L-LEUCINE IN CHILDREN AND ADULTS WITH GM2 GANGLIOSIDOSES
MARTAKIS, K., CLAASSEN, J., GASCON BAYARRI, J., GOLDSCHAGG,N., HAHN, A., HASSAN, A., HENNIG, A., JONES, S. , LAU, H., PERLMAN, S., SHARMA, R., SCHNEIDER, S. A., BREMOVA-ERTL. T
Pub Med

EFFICACY AND SAFETY OF N-ACETYL-L-LEUCINE IN NIEMANN-PICK DISEASE TYPE
BREMOVA, T., CLAASSEN, J., FOLTAN, T., GASCON BAYARRI, J., GISSEN, P., HAHN, A., HASSAN, A., HENNIG, A., JONES, S. , KOLNIKOVA, M., MARTAKIS, K., RAMASWAMI, U, SHARMA, R., SCHNEIDER, S. A.
Pub Med

Non-clinical Studies

ORMDL MISLOCALIZATION BY IMPAIRED AUTOPHAGY IN NIEMANN-PICK TYPE C DISEASE LEADS TO INCREASED DE NOVO SPHINGOLIPID BIOSYNTHESIS
BROWN, R., MAHAWAR, U., WATTENBERG, B., SPIEGEL, S.
Pub Med

N-ACETYL-L-LEUCINE PROTECTS MPTP-TREATED PARKINSON’S DISEASE MOUSE MODELS BY SUPPRESSING DESULFOBACTEROTA VIA THE GUT-BRAIN AXIS
ZHIFENG XUA, CHANGLIN LIANA, LIXIN PANA, WENJIE LAIA,E, FEN ZHANGA, LINGMEI PENGA, SIJIE ZHOU B, GUANGHUA ZHAO C, XUEZHU YANG D, GUOHUA ZHANG A, E, ZEFENG TAN A, YUKAI WANGA
Pub Med

EFFICIENT NEUROPROTECTIVE RESCUE OF SACSIN-RELATED DISEASE PHENOTYPES IN ZEBRAFISH
NAEF, V., MARCHESE, M., OGI, A., FICHI, G., GALATOLO, D., LICITRA, R., DOCCINI, S., VERRI, T., ARGENTON, F., MORANI, F., SANTORELLI, F.
Pub Med

ACETYLATION TURNS LEUCINE INTO A DRUG BY MEMBRANE TRANSPORTER SWITCHING
CHURCHILL, C., STRUPP, M., FACTOR, C., BREMOVA-ERTL, T., FACTOR, M., PATTERSON, M., PLATT, F.M., GALIONE, A.
Pub Med

ACETYLATION OF L-LEUCINE SWITCHES ITS CARRIER FROM THE L-AMINO ACID TRANSPORTER (LAT) TO ORGANIC ANION TRANSPORTERS (OAT)
CHURCHILL, C., STRUPP, M., BREMOVA-ERTL, T., FACTOR, M., PATTERSON, M., PLATT, F., GALIONE, A.
Pub Med

ACETYL-LEUCINE SLOWS DISEASE PROGRESSION IN LYSOSOMAL STORAGE DISORDERS
KAYA, E., SMITH, D., SMITH, C., MORRIS, L., BREMOVA-ERTL, T., CORTINA-BORJA, M., FINERAN, P., MORTEN, K., POULTON, J., BOLAND, B., SPENCER, J., STRUPP, M., PLATT, F.M.
Pub Med

BENEFICIAL EFFECTS OF ACETYL-DL-LEUCINE (ADLL) IN A MOUSE MODEL OF SANDHOFF DISEASE
KAYA, E., SMITH, D.A, SMITH, C., BOLAND, B. STRUPP, M., PLATT, F.M.
Pub Med

EFFECTS OF N-ACETYL-LEUCINE AND ITS ENANTIOMERS IN NIEMANN-PICK DISEASE TYPE C CELLS
TE VRUTCHE, D., GALIONE, A., STRUPP, M., MANN, M.
Pub Med

N‐ACETYL‐L‐LEUCINE IMPROVES FUNCTIONAL RECOVERY AND ATTENUATES CORTICAL CELL DEATH AND NEUROINFLAMMATION AFTER TRAUMATIC BRAIN INJURY IN MICE
HEGDEKAR, N., LIPINSKI, M.M, SARKAR, C.
Pub Med

UNEXPECTED DIFFERENCES IN THE PHARMACOKINETICS OF N-ACETYL DL-LEUCINE ENANTIOMERS AFTER ORAL DOSING AND THEIR CLINICAL RELEVANCE
CHURCHILL C., STRUPP M., GALIONE A., PLATT F.
Pub Med
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